gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005389 (NFE)
Genomes Max Group AF
0.00001973 (NFE)
Exomes Max Group AF
0.00005431 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.124842899dup , CM000669.2:g.124842899dup | GRCh38 |
| NC_000007.13:g.124482953dup , CM000669.1:g.124482953dup | GRCh37 |
| NC_000007.12:g.124270189dup | NCBI36 |
| NG_029232.1:g.92085dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357628.8:c.1071dup MANE Select | ENSP00000350249.3:p.Gln358SerfsTer13 | |
| ENST00000430927.6:c.1071dup | ENSP00000397632.2:p.Gln358SerfsTer13 | |
| ENST00000653241.1:c.1071dup | ENSP00000499476.1:p.Gln358SerfsTer13 | |
| ENST00000653274.1:c.1071dup | ENSP00000499382.1:p.Gln358SerfsTer13 | |
| ENST00000653819.1:c.*802dup | ENSP00000499533.1:n.*802dup | |
| ENST00000653892.1:c.*713dup | ENSP00000499506.1:n.*713dup | |
| ENST00000654766.1:c.1071dup | ENSP00000499395.1:p.Gln358SerfsTer13 | |
| ENST00000655761.1:c.1071dup | ENSP00000499635.1:p.Gln358SerfsTer13 | |
| ENST00000657333.1:c.*802dup | ENSP00000499425.1:n.*802dup | |
| ENST00000657892.1:c.*940dup | ENSP00000499524.1:n.*940dup | |
| ENST00000661898.1:c.1071dup | ENSP00000499528.1:p.Gln358SerfsTer13 | |
| ENST00000662531.1:c.*966dup | ENSP00000499488.1:n.*966dup | |
| ENST00000664330.1:c.*922dup | ENSP00000499781.1:n.*922dup | |
| ENST00000664366.1:c.1071dup | ENSP00000499290.1:p.Gln358SerfsTer13 | |
| ENST00000668382.1:c.1071dup | ENSP00000499546.1:p.Gln358SerfsTer13 | |
| ENST00000357628.7:c.1071dup | ENSP00000350249.3:p.Gln358SerfsTer13 | |
| ENST00000393329.5:c.678dup | ENSP00000377002.1:p.Gln227SerfsTer13 | |
| ENST00000466483.1:n.351dup | ||
| ENST00000607932.5:c.1071dup | ENSP00000476506.1:p.Gln358SerfsTer13 | |
| ENST00000608057.5:c.*168dup | ENSP00000476371.1:n.*168dup | |
| ENST00000609106.5:c.1071dup | ENSP00000476981.1:p.Gln358SerfsTer13 | |
| NM_001042594.1:c.678dup | NP_001036059.1:p.Gln227SerfsTer13 | |
| NM_015450.2:c.1071dup | NP_056265.2:p.Gln358SerfsTer13 | |
| NR_003102.1:n.1792dup | ||
| NR_003103.1:n.1672dup | ||
| NR_003104.1:n.1672dup | ||
| XM_006715917.2:c.1071dup | XP_006715980.1:p.Gln358SerfsTer13 | |
| XM_011516006.1:c.678dup | XP_011514308.1:p.Gln227SerfsTer13 | |
| XM_011516007.1:c.678dup | XP_011514309.1:p.Gln227SerfsTer13 | |
| XM_006715917.4:c.1071dup | XP_006715980.1:p.Gln358SerfsTer13 | |
| XM_017011942.2:c.678dup | XP_016867431.1:p.Gln227SerfsTer13 | |
| XR_001744618.1:n.1662dup | ||
| XR_001744619.2:n.1531dup | ||
| NM_015450.3:c.1071dup MANE Select | NP_056265.2:p.Gln358SerfsTer13 | |
| NM_001042594.2:c.678dup | NP_001036059.1:p.Gln227SerfsTer13 | |
| NR_003102.2:n.1634dup | ||
| NR_003103.2:n.1514dup | ||
| NR_003104.2:n.1514dup |