Dear gnomAD support,
Thank you for your work on the new gnomAD v4.0 version.
I work in the field of rare diseases, and recently we noticed that some known pathogenic variants were present with high frequency in the new version of gnomAD.
As an example, I looked at the p.Phe508del mutation in the CFTR gene, which is found at the homozygous state in 58 individuals in gnomAD V4, and 1 individual in gnomAD V2. I first thaught that these individuals were taken from UKBB, but in the vcf file it appeared that they were categorized as non-ukb.
Is it possible that non-ukb individuals could have such a rare disease?
See below the variant in the vcf file:
chr7 117559590 rs113993960 ATCT A . PASS AC=18037;AN=1460114;AF=0.0123531;grpmax=nfe;
fafmax_faf95_max=0.0147908;fafmax_faf95_max_gen_anc=nfe;AC_XX=9243;AF_XX=0.0125988;AN_XX=733644;nhomalt_XX=27;AC_XY=
8794;AF_XY=0.0121051;AN_XY=726470;nhomalt_XY=30;nhomalt=57;AC_afr_XX=47;AF_afr_XX=0.00243448;AN_afr_XX=19306;nhomalt
afr_XX=1;AC_afr_XY=30;AF_afr_XY=0.00212194;AN_afr_XY=14138;nhomalt_afr_XY=0;AC_afr=77;AF_afr=0.00230236;AN_afr=3344
4;nhomalt_afr=1;AC_amr_XX=94;AF_amr_XX=0.00365901;AN_amr_XX=25690;nhomalt_amr_XX=0;AC_amr_XY=83;AF_amr_XY=0.00436199
;AN_amr_XY=19028;nhomalt_amr_XY=1;AC_amr=177;AF_amr=0.00395814;AN_amr=44718;nhomalt_amr=1;AC_asj_XX=82;AF_asj_XX=0.0
0649454;AN_asj_XX=12626;nhomalt_asj_XX=0;AC_asj_XY=83;AF_asj_XY=0.00615453;AN_asj_XY=13486;nhomalt_asj_XY=0;AC_asj=1
65;AF_asj=0.00631893;AN_asj=26112;nhomalt_asj=0;AC_eas_XX=1;AF_eas_XX=4.83746e-05;AN_eas_XX=20672;nhomalt_eas_XX=0;A
C_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=18950;nhomalt_eas_XY=0;AC_eas=1;AF_eas=2.52385e-05;AN_eas=39622;nhomalt_eas=0
;AC_fin_XX=70;AF_fin_XX=0.00253642;AN_fin_XX=27598;nhomalt_fin_XX=0;AC_fin_XY=77;AF_fin_XY=0.00299331;AN_fin_XY=2572
4;nhomalt_fin_XY=1;AC_fin=147;AF_fin=0.00275684;AN_fin=53322;nhomalt_fin=1;AC_mid_XX=3;AF_mid_XX=0.00119713;AN_mid_X
X=2506;nhomalt_mid_XX=0;AC_mid_XY=7;AF_mid_XY=0.00214856;AN_mid_XY=3258;nhomalt_mid_XY=0;AC_mid=10;AF_mid=0.00173491
;AN_mid=5764;nhomalt_mid=0;AC_nfe_XX=8585;AF_nfe_XX=0.0150230;AN_nfe_XX=571456;nhomalt_nfe_XX=23;AC_nfe_XY=8053;AF_n
fe_XY=0.0149377;AN_nfe_XY=539104;nhomalt_nfe_XY=25;AC_nfe=16638;AF_nfe=0.0149816;AN_nfe=1110560;nhomalt_nfe=48;AC_no
n_ukb_XX=2524;AF_non_ukb_XX=0.00882369;AN_non_ukb_XX=286048;nhomalt_non_ukb_XX=26;AC_non_ukb_XY=2934;AF_non_ukb_XY=0
.00857068;AN_non_ukb_XY=342330;nhomalt_non_ukb_XY=29;AC_non_ukb=5458;AF_non_ukb=0.00868585;AN_non_ukb=628378;nhomalt
non_ukb=55;AC_non_ukb_afr_XX=36;AF_non_ukb_afr_XX=0.00350263;AN_non_ukb_afr_XX=10278;nhomalt_non_ukb_afr_XX=1;AC_no
n_ukb_afr_XY=22;AF_non_ukb_afr_XY=0.00297217;AN_non_ukb_afr_XY=7402;nhomalt_non_ukb_afr_XY=0;AC_non_ukb_afr=58;AF_no
n_ukb_afr=0.00328054;AN_non_ukb_afr=17680;nhomalt_non_ukb_afr=1;AC_non_ukb_amr_XX=88;AF_non_ukb_amr_XX=0.00351438;AN
non_ukb_amr_XX=25040;nhomalt_non_ukb_amr_XX=0;AC_non_ukb_amr_XY=83;AF_non_ukb_amr_XY=0.00443898;AN_non_ukb_amr_XY=1
8698;nhomalt_non_ukb_amr_XY=1;AC_non_ukb_amr=171;AF_non_ukb_amr=0.00390964;AN_non_ukb_amr=43738;nhomalt_non_ukb_amr=
1;AC_non_ukb_asj_XX=61;AF_non_ukb_asj_XX=0.00620549;AN_non_ukb_asj_XX=9830;nhomalt_non_ukb_asj_XX=0;AC_non_ukb_asj_X
Y=71;AF_non_ukb_asj_XY=0.00637686;AN_non_ukb_asj_XY=11134;nhomalt_non_ukb_asj_XY=0;AC_non_ukb_asj=132;AF_non_ukb_asj
=0.00629651;AN_non_ukb_asj=20964;nhomalt_non_ukb_asj=0;AC_non_ukb_eas_XX=0;AF_non_ukb_eas_XX=0.00000;AN_non_ukb_eas
XX=18264;nhomalt_non_ukb_eas_XX=0;AC_non_ukb_eas_XY=0;AF_non_ukb_eas_XY=0.00000;AN_non_ukb_eas_XY=17734;nhomalt_non
ukb_eas_XY=0;AC_non_ukb_eas=0;AF_non_ukb_eas=0.00000;AN_non_ukb_eas=35998;nhomalt_non_ukb_eas=0;AC_non_ukb_fin_XX=67
;AF_non_ukb_fin_XX=0.00244973;AN_non_ukb_fin_XX=27350;nhomalt_non_ukb_fin_XX=0;AC_non_ukb_fin_XY=77;AF_non_ukb_fin_X
Y=0.00299634;AN_non_ukb_fin_XY=25698;nhomalt_non_ukb_fin_XY=1;AC_non_ukb_fin=144;AF_non_ukb_fin=0.00271452;AN_non_uk
b_fin=53048;nhomalt_non_ukb_fin=1;AC_non_ukb_mid_XX=1;AF_non_ukb_mid_XX=0.000521921;AN_non_ukb_mid_XX=1916;nhomalt_n
on_ukb_mid_XX=0;AC_non_ukb_mid_XY=2;AF_non_ukb_mid_XY=0.000897666;AN_non_ukb_mid_XY=2228;nhomalt_non_ukb_mid_XY=0;AC
non_ukb_mid=3;AF_non_ukb_mid=0.000723938;AN_non_ukb_mid=4144;nhomalt_non_ukb_mid=0;AC_non_ukb_nfe_XX=2105;AF_non_uk
b_nfe_XX=0.0129834;AN_non_ukb_nfe_XX=162130;nhomalt_non_ukb_nfe_XX=22;AC_non_ukb_nfe_XY=2388;AF_non_ukb_nfe_XY=0.012
7155;AN_non_ukb_nfe_XY=187802;nhomalt_non_ukb_nfe_XY=24;AC_non_ukb_nfe=4493;AF_non_ukb_nfe=0.0128396;AN_non_ukb_nfe=
349932;nhomalt_non_ukb_nfe=46;AC_non_ukb_raw=5460;AF_non_ukb_raw=0.00868343;AN_non_ukb_raw=628784;nhomalt_non_ukb_ra
w=55;AC_non_ukb_remaining_XX=136;AF_non_ukb_remaining_XX=0.00812522;AN_non_ukb_remaining_XX=16738;nhomalt_non_ukb_re
maining_XX=3;AC_non_ukb_remaining_XY=149;AF_non_ukb_remaining_XY=0.00911761;AN_non_ukb_remaining_XY=16342;nhomalt_no
n_ukb_remaining_XY=3;AC_non_ukb_remaining=285;AF_non_ukb_remaining=0.00861548;AN_non_ukb_remaining=33080;nhomalt_non
ukb_remaining=6;AC_non_ukb_sas_XX=30;AF_non_ukb_sas_XX=0.00206868;AN_non_ukb_sas_XX=14502;nhomalt_non_ukb_sas_XX=0;
AC_non_ukb_sas_XY=142;AF_non_ukb_sas_XY=0.00256818;AN_non_ukb_sas_XY=55292;nhomalt_non_ukb_sas_XY=0;AC_non_ukb_sas=1
72;AF_non_ukb_sas=0.00246440;AN_non_ukb_sas=69794;nhomalt_non_ukb_sas=0;AC_raw=18318;AF_raw=0.0125306;AN_raw=1461856
;nhomalt_raw=57;AC_remaining_XX=315;AF_remaining_XX=0.00991751;AN_remaining_XX=31762;nhomalt_remaining_XX=3;AC_remai
ning_XY=294;AF_remaining_XY=0.0102862;AN_remaining_XY=28582;nhomalt_remaining_XY=3;AC_remaining=609;AF_remaining=0.0
100921;AN_remaining=60344;nhomalt_remaining=6;AC_sas_XX=46;AF_sas_XX=0.00208825;AN_sas_XX=22028;nhomalt_sas_XX=0;AC
sas_XY=167;AF_sas_XY=0.00260125;AN_sas_XY=64200;nhomalt_sas_XY=0;AC_sas=213;AF_sas=0.00247020;AN_sas=86228;nhomalt_s
as=0;AC_joint_XX=9906;AF_joint_XX=0.0122081;AN_joint_XX=811430;nhomalt_joint_XX=28;AC_joint_XY=9331;AF_joint_XY=0.01
16508;AN_joint_XY=800890;nhomalt_joint_XY=30;AC_joint=19237;AF_joint=0.0119313;AN_joint=1612320;nhomalt_joint=58;AC
joint_afr_XX=92;AF_joint_afr_XX=0.00221890;AN_joint_afr_XX=41462;nhomalt_joint_afr_XX=1;AC_joint_afr_XY=93;AF_joint
afr_XY=0.00277297;AN_joint_afr_XY=33538;nhomalt_joint_afr_XY=0;AC_joint_afr=185;AF_joint_afr=0.00246667;AN_joint_afr
=75000;nhomalt_joint_afr=1;AC_joint_ami_XX=1;AF_joint_ami_XX=0.00212766;AN_joint_ami_XX=470;nhomalt_joint_ami_XX=0;A
C_joint_ami_XY=0;AF_joint_ami_XY=0.00000;AN_joint_ami_XY=442;nhomalt_joint_ami_XY=0;AC_joint_ami=1;AF_joint_ami=0.00
109649;AN_joint_ami=912;nhomalt_joint_ami=0;AC_joint_amr_XX=121;AF_joint_amr_XX=0.00372583;AN_joint_amr_XX=32476;nho
malt_joint_amr_XX=0;AC_joint_amr_XY=113;AF_joint_amr_XY=0.00410431;AN_joint_amr_XY=27532;nhomalt_joint_amr_XY=1;AC_j
oint_amr=234;AF_joint_amr=0.00389948;AN_joint_amr=60008;nhomalt_joint_amr=1;AC_joint_asj_XX=93;AF_joint_asj_XX=0.006
41645;AN_joint_asj_XX=14494;nhomalt_joint_asj_XX=0;AC_joint_asj_XY=86;AF_joint_asj_XY=0.00569914;AN_joint_asj_XY=150
90;nhomalt_joint_asj_XY=0;AC_joint_asj=179;AF_joint_asj=0.00605057;AN_joint_asj=29584;nhomalt_joint_asj=0;AC_joint_e
as_XX=1;AF_joint_eas_XX=4.35920e-05;AN_joint_eas_XX=22940;nhomalt_joint_eas_XX=0;AC_joint_eas_XY=0;AF_joint_eas_XY=0
.00000;AN_joint_eas_XY=21862;nhomalt_joint_eas_XY=0;AC_joint_eas=1;AF_joint_eas=2.23204e-05;AN_joint_eas=44802;nhoma
lt_joint_eas=0;AC_joint_fin_XX=76;AF_joint_fin_XX=0.00251906;AN_joint_fin_XX=30170;nhomalt_joint_fin_XX=0;AC_joint_f
in_XY=87;AF_joint_fin_XY=0.00257671;AN_joint_fin_XY=33764;nhomalt_joint_fin_XY=1;AC_joint_fin=163;AF_joint_fin=0.002
54950;AN_joint_fin=63934;nhomalt_joint_fin=1;AC_joint_mid_XX=4;AF_joint_mid_XX=0.00150943;AN_joint_mid_XX=2650;nhoma
lt_joint_mid_XX=0;AC_joint_mid_XY=7;AF_joint_mid_XY=0.00205399;AN_joint_mid_XY=3408;nhomalt_joint_mid_XY=0;AC_joint_
mid=11;AF_joint_mid=0.00181578;AN_joint_mid=6058;nhomalt_joint_mid=0;AC_joint_nfe_XX=9146;AF_joint_nfe_XX=0.0149742;
AN_joint_nfe_XX=610782;nhomalt_joint_nfe_XX=24;AC_joint_nfe_XY=8464;AF_joint_nfe_XY=0.0149084;AN_joint_nfe_XY=567732
;nhomalt_joint_nfe_XY=25;AC_joint_nfe=17610;AF_joint_nfe=0.0149425;AN_joint_nfe=1178514;nhomalt_joint_nfe=49;AC_join
t_raw=19525;AF_joint_raw=0.0120956;AN_joint_raw=1614218;nhomalt_joint_raw=58;AC_joint_remaining_XX=322;AF_joint_rema
ining_XX=0.00981528;AN_joint_remaining_XX=32806;nhomalt_joint_remaining_XX=3;AC_joint_remaining_XY=303;AF_joint_rema
ining_XY=0.0102199;AN_joint_remaining_XY=29648;nhomalt_joint_remaining_XY=3;AC_joint_remaining=625;AF_joint_remainin
g=0.0100074;AN_joint_remaining=62454;nhomalt_joint_remaining=6;AC_joint_sas_XX=50;AF_joint_sas_XX=0.00215703;AN_join
t_sas_XX=23180;nhomalt_joint_sas_XX=0;AC_joint_sas_XY=178;AF_joint_sas_XY=0.00262251;AN_joint_sas_XY=67874;nhomalt_j
oint_sas_XY=0;AC_joint_sas=228;AF_joint_sas=0.00250401;AN_joint_sas=91054;nhomalt_joint_sas=0;AC_grpmax=16638;AF_grp
max=0.0149816;AN_grpmax=1110560;nhomalt_grpmax=48;grpmax_non_ukb=nfe;AC_grpmax_non_ukb=4493;AF_grpmax_non_ukb=0.0128
396;AN_grpmax_non_ukb=349932;nhomalt_grpmax_non_ukb=46;grpmax_joint=nfe;AC_grpmax_joint=17610;AF_grpmax_joint=0.0149
425;AN_grpmax_joint=1178514;nhomalt_grpmax_joint=49;faf95=0.0122019;faf95_afr=0.00188815;faf95_amr=0.00348124;faf95_
eas=0.00000;faf95_nfe=0.0147908;faf95_non_ukb=0.00849252;faf95_non_ukb_afr=0.00260549;faf95_non_ukb_amr=0.00343116;f
af95_non_ukb_eas=0.00000;faf95_non_ukb_nfe=0.0125253;faf95_non_ukb_sas=0.00216324;faf95_sas=0.00219836;faf99=0.01213
97;faf99_afr=0.00173618;faf99_amr=0.00329847;faf99_eas=0.00000;faf99_nfe=0.0147124;faf99_non_ukb=0.00841420;faf99_no
n_ukb_afr=0.00236172;faf99_non_ukb_amr=0.00324711;faf99_non_ukb_eas=0.00000;faf99_non_ukb_nfe=0.0123980;faf99_non_uk
b_sas=0.00204780;faf99_sas=0.00209309;fafmax_faf99_max=0.0147124;fafmax_faf99_max_gen_anc=nfe;fafmax_faf95_max_non_u
kb=0.0125253;fafmax_faf95_max_gen_anc_non_ukb=nfe;fafmax_faf99_max_non_ukb=0.0123980;fafmax_faf99_max_gen_anc_non_uk
b=nfe;faf95_joint=0.0117898;faf95_joint_afr=0.00217569;faf95_joint_amr=0.00348893;faf95_joint_eas=0.00000;faf95_join
t_nfe=0.0147572;faf95_joint_sas=0.00223670;faf99_joint=0.0117316;faf99_joint_afr=0.00206404;faf99_joint_amr=0.003330
89;faf99_joint_eas=0.00000;faf99_joint_nfe=0.0146814;faf99_joint_sas=0.00213364;fafmax_faf95_max_joint=0.0147572;faf
max_faf95_max_gen_anc_joint=nfe;fafmax_faf99_max_joint=0.0146814;fafmax_faf99_max_gen_anc_joint=nfe;fafmax_data_type
joint=both;age_hist_het_bin_freq=41|61|1284|1657|1949|2328|3255|2490|135|55;age_hist_het_n_smaller=74;age_hist_het
n_larger=42;age_hist_hom_bin_freq=0|2|2|0|1|0|0|0|0|0;age_hist_hom_n_smaller=2;age_hist_hom_n_larger=0;FS=0.00000;MQ
=59.9995;MQRankSum=0.00000;QUALapprox=15259811;QD=16.9568;ReadPosRankSum=-0.0610000;SOR=0.698529;VarDP=899924;AS_FS=
0.00000;AS_MQ=59.9996;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=15156231;AS_QD=17.0005;AS_ReadPosRankSum
=-0.0570000;AS_SB_TABLE=206983,286255|168607,234525;AS_SOR=0.698909;AS_VarDP=891516;inbreeding_coeff=-0.00638730;AS_
culprit=AS_FS;AS_VQSLOD=7.40900;positive_train_site;allele_type=del;n_alt_alleles=2;variant_type=mixed;was_mixed;fai
l_interval_qc;gq_hist_alt_bin_freq=0|0|0|0|0|1|0|0|0|0|0|0|3|3|2|0|9|2|22|17938;gq_hist_all_bin_freq=0|0|0|0|904|1|6
374|0|324453|1|31129|0|349066|3|3|2|10|4|22|18085;dp_hist_alt_bin_freq=0|0|412|1606|2955|3243|2480|1580|1004|785|710
|533|507|405|372|306|217|229|158|170;dp_hist_alt_n_larger=308;dp_hist_all_bin_freq=0|0|4471|25532|65174|214785|33409
2|58757|6772|2366|2231|1972|1907|1675|1449|1339|1247|1231|1052|1025;dp_hist_all_n_larger=2980;ab_hist_alt_bin_freq=0
|0|0|0|466|1293|1963|2488|3599|3051|2971|1362|462|186|55|21|3|2|1|0;cadd_raw_score=1.99364;cadd_phred=19.2100;splice
ai_ds_max=0.00000;pangolin_largest_ds=0.00000;phylop=0.982000;VRS_Allele_IDs=ga4gh:VA.Q3uZ4izm8m3V3QaYtpS9Dxt021QMdY
rG,ga4gh:VA.XGWCrvsiX1RvNgda9YrD35GDBlXkmrlo;VRS_Starts=117559589,117559590;VRS_Ends=117559593,117559594;VRS_States=
ATCT,T;vep=-|inframe_deletion|MODERATE|CFTR|ENSG00000001626|Transcript|ENST00000003084|protein_coding|11/27||ENST000
00003084.11:c.1521_1523del|ENSP00000003084.6:p.Phe508del|1590-1592|1520-1522|507-508|IF/I|aTCTtt/att|1||1||deletion|
HGNC|HGNC:1884|YES|NM_000492.4||1|P1|CCDS5773.1|ENSP00000003084|P13569-1|Ensembl|||ENSP_mappings:1xmi&ENSP_mappings:
1xmi&ENSP_mappings:1xmi&ENSP_mappings:1xmi&ENSP_mappings:1xmi&ENSP_mappings:1xmj&ENSP_mappings:2bbo&ENSP_mappings:2b
bs&ENSP_mappings:2bbs&ENSP_mappings:2bbt&ENSP_mappings:2bbt&ENSP_mappings:2pze&ENSP_mappings:2pze&ENSP_mappings:2pzf
&ENSP_mappings:2pzf&ENSP_mappings:2pzg&ENSP_mappings:2pzg&Gene3D:3&ENSP_mappings:4wz6&ENSP_mappings:5tf7&ENSP_mappin
gs:5tf8&ENSP_mappings:5tfa&ENSP_mappings:5tfb&ENSP_mappings:5tfc&ENSP_mappings:5tfd&ENSP_mappings:5tff&ENSP_mappings
:5tfg&ENSP_mappings:5tfi&ENSP_mappings:5tfj&ENSP_mappings:5tgk&ENSP_mappings:5uak&ENSP_mappings:6gjq&ENSP_mappings:6
gjq&ENSP_mappings:6gjq&ENSP_mappings:6gjq&ENSP_mappings:6gjs&ENSP_mappings:6gju&ENSP_mappings:6gk4&ENSP_mappings:6gk
4&ENSP_mappings:6gkd&ENSP_mappings:6gkd&ENSP_mappings:6gkd&ENSP_mappings:6gkd&ENSP_mappings:6gkd&ENSP_mappings:6gkd&
ENSP_mappings:6msm&ENSP_mappings:6o1v&ENSP_mappings:6o2p&ENSP_mappings:6wbs&ENSP_mappings:6wbs&Pfam:PF00005&PROSITE_
profiles:PS50893&PANTHER:PTHR24223&PANTHER:PTHR24223&SMART:SM00382&Superfamily:SSF52540&TIGRFAM:TIGR01271&CDD:cd0329
1||1||||||||||,-|inframe_deletion|MODERATE|CFTR|ENSG00000001626|Transcript|ENST00000426809|protein_coding|10/26||ENS
T00000426809.5:c.1431_1433del|ENSP00000389119.1:p.Phe478del|1430-1432|1430-1432|477-478|IF/I|aTCTtt/att|1||1||deleti
on|HGNC|HGNC:1884||||5|||ENSP00000389119||Ensembl|||Gene3D:3&Pfam:PF00005&PROSITE_profiles:PS50893&PANTHER:PTHR24223
&PANTHER:PTHR24223&SMART:SM00382&Superfamily:SSF52540&TIGRFAM:TIGR01271&CDD:cd03291||1||||||||||,-|downstream_gene_v
ariant|MODIFIER|CFTR-AS1|ENSG00000232661|Transcript|ENST00000441019|lncRNA||||||||||1|1140|-1||deletion|HGNC|HGNC:40
144|YES|||3|||||Ensembl|||||||||||||||,-|upstream_gene_variant|MODIFIER|CFTR|ENSG00000001626|Transcript|ENST00000472
848|processed_transcript||||||||||1|45|1||deletion|HGNC|HGNC:1884||||5|||||Ensembl|||||||||||||||,-|3_prime_UTR_vari
ant&NMD_transcript_variant|MODIFIER|CFTR|ENSG00000001626|Transcript|ENST00000647978|nonsense_mediated_decay|11/15||E
NST00000647978.1:c.*1235_*1237del||1495-1497|||||1||1||deletion|HGNC|HGNC:1884|||||||ENSP00000497658||Ensembl|||||||
||||||||,-|inframe_deletion|MODERATE|CFTR|ENSG00000001626|Transcript|ENST00000648260|protein_coding|10/17||ENST00000
648260.1:c.1338_1340del|ENSP00000497957.1:p.Phe447del|1421-1423|1337-1339|446-447|IF/I|aTCTtt/att|1||1||deletion|HGN
C|HGNC:1884|||||||ENSP00000497957||Ensembl|||Gene3D:1&PROSITE_profiles:PS50893&PANTHER:PTHR24223&PANTHER:PTHR24223&S
uperfamily:SSF52540||1||||||||||,-|inframe_deletion|MODERATE|CFTR|ENSG00000001626|Transcript|ENST00000649406|protein
_coding|10/21||ENST00000649406.1:c.1338_1340del|ENSP00000497965.1:p.Phe447del|1421-1423|1337-1339|446-447|IF/I|aTCTt
t/att|1||1||deletion|HGNC|HGNC:1884|||||||ENSP00000497965||Ensembl|||Gene3D:3&Pfam:PF00005&PROSITE_profiles:PS50893&
PANTHER:PTHR24223&PANTHER:PTHR24223&Superfamily:SSF52540&Superfamily:SSF90123||1||||||||||,-|inframe_deletion|MODERA
TE|CFTR|ENSG00000001626|Transcript|ENST00000649781|protein_coding|10/26||ENST00000649781.1:c.1338_1340del|ENSP000004
97203.1:p.Phe447del|1337-1339|1337-1339|446-447|IF/I|aTCTtt/att|1||1||deletion|HGNC|HGNC:1884|||||||ENSP00000497203|
P13569-2|Ensembl|||Gene3D:3&Pfam:PF00005&PROSITE_profiles:PS50893&PANTHER:PTHR24223&PANTHER:PTHR24223&Superfamily:SS
F52540&Superfamily:SSF90123&TIGRFAM:TIGR01271||1||||||||||,-|inframe_deletion|MODERATE|CFTR|1080|Transcript|NM_00049
2.4|protein_coding|11/27||NM_000492.4:c.1521_1523del|NP_000483.3:p.Phe508del|1590-1592|1520-1522|507-508|IF/I|aTCTtt
/att|1||1||deletion|EntrezGene|HGNC:1884|YES|ENST00000003084.11|||||NP_000483.3||RefSeq|||||1||||||||||,-|intron_var
iant&non_coding_transcript_variant|MODIFIER|CFTR-AS1|111082987|Transcript|NR_149084.1|lncRNA||2/2|NR_149084.1:n.221+
1140_221+1142del|||||||1||-1||deletion|EntrezGene|HGNC:40144|YES||||||||RefSeq|||||||||||||||
Kind regards
Kevin UGUEN