Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6034791_6034801del , CM000674.2:g.6034791_6034801del | GRCh38 |
| NC_000012.11:g.6143957_6143967del , CM000674.1:g.6143957_6143967del | GRCh37 |
| NC_000012.10:g.6014218_6014228del | NCBI36 |
| NG_009072.1:g.94872_94882del | |
| NG_009072.2:g.94872_94882del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.2574_2584del MANE Select | ENSP00000261405.5:p.Thr859ValfsTer2 | |
| ENST00000261405.9:c.2574_2584del | ENSP00000261405.5:p.Thr859ValfsTer2 | |
| ENST00000538635.5:n.421-40865_421-40855del | ||
| NM_000552.3:c.2574_2584del | NP_000543.2:p.Thr859ValfsTer2 | |
| NM_000552.4:c.2574_2584del | NP_000543.2:p.Thr859ValfsTer2 | |
| NM_000552.5:c.2574_2584del MANE Select | NP_000543.3:p.Thr859ValfsTer2 |