Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129530536_129530542dup , CM000665.2:g.129530536_129530542dup | GRCh38 |
| NC_000003.11:g.129249379_129249385dup , CM000665.1:g.129249379_129249385dup | GRCh37 |
| NC_000003.10:g.130732069_130732075dup | NCBI36 |
| NG_009115.1:g.6898_6904dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.362-340_362-334dup MANE Select | ENSP00000296271.3:n.362-340_362-334dup | |
| ENST00000296271.3:c.362-340_362-334dup | ENSP00000296271.3:n.362-340_362-334dup | |
| NM_000539.3:c.362-340_362-334dup MANE Select | NP_000530.1:n.362-340_362-334dup |