gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00173275 (EAS)
Genomes Max Group AF
0.00133502 (EAS)
Exomes Max Group AF
0.00168347 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99766412dup , CM000669.2:g.99766412dup | GRCh38 |
| NC_000007.13:g.99364035dup , CM000669.1:g.99364035dup | GRCh37 |
| NC_000007.12:g.99201971dup | NCBI36 |
| NG_008421.1:g.22774dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.830dup | ENSP00000337915.3:p.Asp277GlufsTer9 | |
| ENST00000651162.1:n.265dup | ||
| ENST00000651514.1:c.830dup MANE Select | ENSP00000498939.1:p.Asp277GlufsTer9 | |
| ENST00000651783.1:c.371dup | ENSP00000498924.1:p.Asp124GlufsTer9 | |
| ENST00000652018.1:c.683dup | ENSP00000498733.1:p.Asp228GlufsTer9 | |
| ENST00000336411.6:c.830dup | ENSP00000337915.2:p.Asp277GlufsTer9 | |
| ENST00000354593.6:c.380dup | ENSP00000346607.2:p.Asp127GlufsTer9 | |
| NM_001202855.2:c.827dup | NP_001189784.1:p.Asp276GlufsTer9 | |
| NM_017460.5:c.830dup | NP_059488.2:p.Asp277GlufsTer9 | |
| XM_011515841.1:c.830dup | XP_011514143.1:p.Asp277GlufsTer9 | |
| XM_011515842.1:c.827dup | XP_011514144.1:p.Asp276GlufsTer9 | |
| NM_017460.6:c.830dup MANE Select | NP_059488.2:p.Asp277GlufsTer9 | |
| NM_001202855.3:c.827dup | NP_001189784.1:p.Asp276GlufsTer9 |