Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.106432386del , CM000674.2:g.106432386del | GRCh38 |
| NC_000012.11:g.106826164del , CM000674.1:g.106826164del | GRCh37 |
| NC_000012.10:g.105350294del | NCBI36 |
| NG_031837.1:g.79729del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018082.6:c.1533del MANE Select | NP_060552.4:p.Ile511MetfsTer4 |
| ENST00000228347.9:c.1533del MANE Select | ENSP00000228347.4:p.Ile511MetfsTer4 |
| NM_001160708.1:c.1359del | NP_001154180.1:p.Ile453MetfsTer4 |
| NM_001160708.2:c.1359del | NP_001154180.1:p.Ile453MetfsTer4 |
| NM_018082.5:c.1533del | NP_060552.4:p.Ile511MetfsTer4 |
| ENST00000228347.8:c.1533del | ENSP00000228347.4:p.Ile511MetfsTer4 |
| ENST00000539066.5:c.1359del | ENSP00000445721.1:p.Ile453MetfsTer4 |
| XM_017019621.2:c.1533del | XP_016875110.1:p.Ile511MetfsTer4 |