Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73323610dup , CM000677.2:g.73323610dup | GRCh38 |
| NC_000015.9:g.73615951dup , CM000677.1:g.73615951dup | GRCh37 |
| NC_000015.8:g.71403004dup | NCBI36 |
| NG_009063.1:g.50656dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.2484dup MANE Select | ENSP00000261917.3:p.Leu829AlafsTer? | |
| ENST00000261917.3:c.2484dup | ENSP00000261917.3:p.Leu829AlafsTer? | |
| NM_005477.2:c.2484dup | NP_005468.1:p.Leu829AlafsTer? | |
| XM_011521148.1:c.1266dup | XP_011519450.1:p.Leu423AlafsTer? | |
| XM_011521148.2:c.1266dup | XP_011519450.1:p.Leu423AlafsTer? | |
| NM_005477.3:c.2484dup MANE Select | NP_005468.1:p.Leu829AlafsTer? |