Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52515071dup , CM000674.2:g.52515071dup | GRCh38 |
| NC_000012.11:g.52908855dup , CM000674.1:g.52908855dup | GRCh37 |
| NC_000012.10:g.51195122dup | NCBI36 |
| NG_008297.1:g.10394dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.1649dup MANE Select | NP_000415.2:p.Ser551LeufsTer21 |
| ENST00000252242.9:c.1649dup MANE Select | ENSP00000252242.4:p.Ser551LeufsTer21 |
| NM_000424.3:c.1649dup | NP_000415.2:p.Ser551LeufsTer21 |
| ENST00000252242.8:c.1649dup | ENSP00000252242.4:p.Ser551LeufsTer21 |
| ENST00000552952.1:n.574dup |