Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74755009_74755012dup , CM000677.2:g.74755009_74755012dup | GRCh38 |
| NC_000015.9:g.75047350_75047353dup , CM000677.1:g.75047350_75047353dup | GRCh37 |
| NC_000015.8:g.72834403_72834406dup | NCBI36 |
| NG_008431.1:g.37468_37471dup | |
| NG_008431.2:g.37468_37471dup | |
| NG_061543.1:g.11165_11168dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.1472_1475dup MANE Select | ENSP00000342007.4:p.Pro493AspfsTer14 | |
| ENST00000343932.4:c.1472_1475dup | ENSP00000342007.4:p.Pro493AspfsTer14 | |
| NM_000761.4:c.1472_1475dup | NP_000752.2:p.Pro493AspfsTer14 | |
| NM_000761.5:c.1472_1475dup MANE Select | NP_000752.2:p.Pro493AspfsTer14 |