Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144297dup , CM000670.2:g.38144297dup | GRCh38 |
| NC_000008.10:g.38001815dup , CM000670.1:g.38001815dup | GRCh37 |
| NC_000008.9:g.38120972dup | NCBI36 |
| NG_011827.1:g.11788dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.836dup MANE Select | ENSP00000276449.3:p.Ala280CysfsTer3 | |
| ENST00000276449.8:c.836dup | ENSP00000276449.3:p.Ala280CysfsTer3 | |
| ENST00000520114.1:n.2805dup | ||
| ENST00000522050.1:c.678dup | ||
| NM_000349.2:c.836dup | NP_000340.2:p.Ala280CysfsTer3 | |
| XM_006716392.1:c.742dup | XP_006716455.1:p.Leu248ProfsTer8 | |
| NM_000349.3:c.836dup MANE Select | NP_000340.2:p.Ala280CysfsTer3 |