Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154928865del , CM000685.2:g.154928865del | GRCh38 |
| NC_000023.10:g.154157140del , CM000685.1:g.154157140del | GRCh37 |
| NC_000023.9:g.153810334del | NCBI36 |
| NG_011403.1:g.98860del | |
| NG_011403.2:g.98860del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.4926del MANE Select | ENSP00000353393.4:p.Val1643SerfsTer20 | |
| ENST00000360256.8:c.4926del | ENSP00000353393.4:p.Val1643SerfsTer20 | |
| NM_000132.3:c.4926del | NP_000123.1:p.Val1643SerfsTer20 | |
| XM_011531126.1:c.4821del | XP_011529428.1:p.Val1608SerfsTer20 | |
| NM_000132.4:c.4926del MANE Select | NP_000123.1:p.Val1643SerfsTer20 |