Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44108061dup , CM000669.2:g.44108061dup | GRCh38 |
| NC_000007.13:g.44147660dup , CM000669.1:g.44147660dup | GRCh37 |
| NC_000007.12:g.44114185dup | NCBI36 |
| NG_056775.1:g.8742dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001129.5:c.917dup MANE Select | NP_001120.3:p.Tyr306Ter |
| ENST00000223357.8:c.917dup MANE Select | ENSP00000223357.3:p.Tyr306Ter |
| NM_001129.4:c.917dup | NP_001120.3:p.Tyr306Ter |
| ENST00000223357.7:c.917dup | ENSP00000223357.3:p.Tyr306Ter |
| ENST00000455443.5:c.594dup | |
| XM_011515162.1:c.917dup | XP_011513464.1:p.Tyr306Ter |