Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180619910dup , CM000665.2:g.180619910dup | GRCh38 |
| NC_000003.11:g.180337698dup , CM000665.1:g.180337698dup | GRCh37 |
| NC_000003.10:g.181820392dup | NCBI36 |
| NG_029581.1:g.64588dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_181426.2:c.2061dup MANE Select | NP_852091.1:p.Ala688SerfsTer2 |
| ENST00000476379.6:c.2061dup MANE Select | ENSP00000417960.2:p.Ala688SerfsTer2 |
| NM_181426.1:c.2061dup | NP_852091.1:p.Ala688SerfsTer2 |
| ENST00000442201.6:c.2061dup | ENSP00000405708.2:p.Ala688SerfsTer2 |
| ENST00000476379.5:c.1999-543dup | ENSP00000417960.1:n.1999-543dup |
| ENST00000650641.1:n.1948dup | |
| ENST00000651046.1:c.1869dup | ENSP00000499175.1:p.Ala624SerfsTer2 |
| ENST00000651922.1:n.1386dup | |
| ENST00000652010.1:n.1692dup | |
| ENST00000652408.1:n.2198dup |