Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17339735_17339736del , CM000669.2:g.17339735_17339736del | GRCh38 |
| NC_000007.13:g.17379359_17379360del , CM000669.1:g.17379359_17379360del | GRCh37 |
| NC_000007.12:g.17345884_17345885del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242057.9:c.1910_1911del MANE Select | ENSP00000242057.4:p.Gln637ProfsTer11 | |
| ENST00000637807.1:c.1880_1881del | ENSP00000490530.1:p.Gln627ProfsTer11 | |
| ENST00000642825.1:c.1865_1866del | ENSP00000495987.1:p.Gln622ProfsTer11 | |
| ENST00000242057.8:c.1910_1911del | ENSP00000242057.4:p.Gln637ProfsTer11 | |
| ENST00000463496.1:c.1910_1911del | ENSP00000436466.1:p.Gln637ProfsTer11 | |
| NM_001621.4:c.1910_1911del | NP_001612.1:p.Gln637ProfsTer11 | |
| NM_001621.5:c.1910_1911del MANE Select | NP_001612.1:p.Gln637ProfsTer11 |