Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54495157dup , CM000685.2:g.54495157dup | GRCh38 |
| NC_000023.10:g.54521590dup , CM000685.1:g.54521590dup | GRCh37 |
| NC_000023.9:g.54538315dup | NCBI36 |
| NG_008054.1:g.6011dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004463.3:c.277dup MANE Select | NP_004454.2:p.Tyr93LeufsTer21 |
| ENST00000375135.4:c.277dup MANE Select | ENSP00000364277.3:p.Tyr93LeufsTer21 |
| NM_004463.2:c.277dup | NP_004454.2:p.Tyr93LeufsTer21 |
| ENST00000375135.3:c.277dup | ENSP00000364277.3:p.Tyr93LeufsTer21 |