Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54758037dup , CM000663.2:g.54758037dup | GRCh38 |
| NC_000001.10:g.55223710dup , CM000663.1:g.55223710dup | GRCh37 |
| NC_000001.9:g.54996298dup | NCBI36 |
| NG_042048.1:g.11522dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152268.4:c.1130dup MANE Select | NP_689481.2:p.Lys378Ter |
| ENST00000371279.4:c.1130dup MANE Select | ENSP00000360327.3:p.Lys378Ter |
| NM_152268.3:c.1130dup | NP_689481.2:p.Lys378Ter |
| ENST00000371279.3:c.1130dup | ENSP00000360327.3:p.Lys378Ter |
| XM_011541203.1:c.1307dup | XP_011539505.1:p.Lys437Ter |