Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785802dup , CM000681.2:g.18785802dup | GRCh38 |
| NC_000019.9:g.18896612dup , CM000681.1:g.18896612dup | GRCh37 |
| NC_000019.8:g.18757612dup | NCBI36 |
| NG_007070.1:g.10504dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1540dup MANE Select | ENSP00000222271.2:p.Val514GlyfsTer12 | |
| ENST00000222271.6:c.1540dup | ENSP00000222271.2:p.Val514GlyfsTer12 | |
| ENST00000425807.1:c.1381dup | ENSP00000403792.1:p.Val461GlyfsTer12 | |
| ENST00000542601.6:c.1441dup | ENSP00000439156.2:p.Val481GlyfsTer12 | |
| NM_000095.2:c.1540dup | NP_000086.2:p.Val514GlyfsTer12 | |
| NM_000095.3:c.1540dup MANE Select | NP_000086.2:p.Val514GlyfsTer12 |