gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002254 (AMR)
Genomes Max Group AF
0.00000798 (AFR)
Exomes Max Group AF
0.00001779 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66517150_66517152del , CM000678.2:g.66517150_66517152del | GRCh38 |
| NC_000016.9:g.66551053_66551055del , CM000678.1:g.66551053_66551055del | GRCh37 |
| NC_000016.8:g.65108554_65108556del | NCBI36 |
| NG_016862.1:g.38263_38265del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299697.12:c.436_438del | ENSP00000299697.9:p.Lys146del | |
| ENST00000417693.8:c.550_552del | ENSP00000407469.5:p.Lys184del | |
| ENST00000451102.7:c.511_513del | ENSP00000414334.4:p.Lys171del | |
| ENST00000527284.6:c.548_550del | ||
| ENST00000527800.6:c.313_315del | ENSP00000433770.1:p.Lys105del | |
| ENST00000544898.6:c.604_606del MANE Select | ENSP00000440898.2:p.Lys202del | |
| ENST00000567357.6:c.*462_*464del | ENSP00000457959.2:n.*462_*464del | |
| ENST00000569718.6:c.357-3339_357-3337del | ENSP00000464313.2:n.357-3339_357-3337del | |
| ENST00000620035.5:c.375-3339_375-3337del | ENSP00000483833.2:n.375-3339_375-3337del | |
| ENST00000676538.1:c.187_189del | ||
| ENST00000676904.1:c.89+639_89+641del | ||
| ENST00000677379.1:c.245_247del | ENSP00000503672.1:n.245_247del | |
| ENST00000677420.1:c.313_315del | ENSP00000504648.1:p.Lys105del | |
| ENST00000677555.1:c.313_315del | ENSP00000503331.1:p.Lys105del | |
| ENST00000677715.1:c.313_315del | ENSP00000502950.1:p.Lys105del | |
| ENST00000678015.1:c.313_315del | ENSP00000502959.1:p.Lys105del | |
| ENST00000678297.1:c.313_315del | ENSP00000503472.1:p.Lys105del | |
| ENST00000299697.11:c.604_606del | ENSP00000299697.8:p.Lys202del | |
| ENST00000417693.7:c.676_678del | ENSP00000407469.4:p.Lys226del | |
| ENST00000451102.6:c.730_732del | ENSP00000414334.3:p.Lys244del | |
| ENST00000525974.5:c.313_315del | ENSP00000434594.1:p.Lys105del | |
| ENST00000527284.5:c.511_513del | ENSP00000435312.1:p.Lys171del | |
| ENST00000527800.5:c.313_315del | ENSP00000433770.1:p.Lys105del | |
| ENST00000544898.5:c.604_606del | ENSP00000440898.2:p.Lys202del | |
| ENST00000545043.6:c.529_531del | ENSP00000438143.2:p.Lys177del | |
| ENST00000561527.5:n.163_165del | ||
| ENST00000561728.1:c.53_55del | ||
| ENST00000562552.5:n.420_422del | ||
| ENST00000563099.5:n.131_133del | ||
| ENST00000563369.6:c.313_315del | ENSP00000463560.1:p.Lys105del | |
| ENST00000563478.5:c.313_315del | ENSP00000462341.1:p.Lys105del | |
| ENST00000564792.1:n.259_261del | ||
| ENST00000564917.5:c.604_606del | ENSP00000455187.1:p.Lys202del | |
| ENST00000567357.5:c.*462_*464del | ENSP00000457959.1:n.*462_*464del | |
| ENST00000569718.5:c.344-3339_344-3337del | ||
| ENST00000620035.4:c.550_552del | ENSP00000483833.1:p.Lys184del | |
| NM_001172643.1:c.511_513del | NP_001166114.1:p.Lys171del | |
| NM_001172644.1:c.529_531del | NP_001166115.1:p.Lys177del | |
| NM_001172645.1:c.550_552del | NP_001166116.1:p.Lys184del | |
| NM_001271934.1:c.457_459del | NP_001258863.1:p.Lys153del | |
| NM_001271935.1:c.357-3339_357-3337del | NP_001258864.1:n.357-3339_357-3337del | |
| NM_001272050.1:c.313_315del | NP_001258979.1:p.Lys105del | |
| NM_004614.4:c.604_606del | NP_004605.4:p.Lys202del | |
| NR_073520.1:n.1883_1885del | ||
| NM_001172644.2:c.529_531del | NP_001166115.1:p.Lys177del | |
| NM_001271934.2:c.457_459del | NP_001258863.1:p.Lys153del | |
| NM_001272050.2:c.313_315del | NP_001258979.1:p.Lys105del | |
| NM_004614.5:c.604_606del MANE Select | NP_004605.4:p.Lys202del | |
| NR_073520.2:n.1593_1595del | ||
| NM_001172645.2:c.550_552del | NP_001166116.1:p.Lys184del |