Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129530869dup , CM000665.2:g.129530869dup | GRCh38 |
| NC_000003.11:g.129249712dup , CM000665.1:g.129249712dup | GRCh37 |
| NC_000003.10:g.130732402dup | NCBI36 |
| NG_009115.1:g.7231dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.362-7dup MANE Select | ENSP00000296271.3:n.362-7dup | |
| ENST00000296271.3:c.362-7dup | ENSP00000296271.3:n.362-7dup | |
| NM_000539.3:c.362-7dup MANE Select | NP_000530.1:n.362-7dup |