Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54470177dup , CM000685.2:g.54470177dup | GRCh38 |
| NC_000023.10:g.54496610dup , CM000685.1:g.54496610dup | GRCh37 |
| NC_000023.9:g.54513335dup | NCBI36 |
| NG_008054.1:g.30994dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004463.3:c.944dup MANE Select | NP_004454.2:p.Ala316CysfsTer4 |
| ENST00000375135.4:c.944dup MANE Select | ENSP00000364277.3:p.Ala316CysfsTer4 |
| NM_004463.2:c.944dup | NP_004454.2:p.Ala316CysfsTer4 |
| ENST00000375135.3:c.944dup | ENSP00000364277.3:p.Ala316CysfsTer4 |