Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583141_41583234del , CM000679.2:g.41583141_41583234del | GRCh38 |
| NC_000017.10:g.39739393_39739486del , CM000679.1:g.39739393_39739486del | GRCh37 |
| NC_000017.9:g.36992919_36993012del | NCBI36 |
| NG_008624.1:g.8662_8755del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1274+1_1275-1del MANE Select | ENSP00000167586.6:n.1274+1_1275-1del | |
| ENST00000167586.6:c.1274+1_1275-1del | ENSP00000167586.6:n.1274+1_1275-1del | |
| ENST00000441550.2:n.221+1_222-1del | ||
| NM_000526.4:c.1274+1_1275-1del | NP_000517.2:n.1274+1_1275-1del | |
| NM_000526.5:c.1274+1_1275-1del MANE Select | NP_000517.3:n.1274+1_1275-1del |