Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64752964del , CM000673.2:g.64752964del | GRCh38 |
| NC_000011.9:g.64520436del , CM000673.1:g.64520436del | GRCh37 |
| NC_000011.8:g.64277012del | NCBI36 |
| NG_013018.1:g.12754del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.1518+111del MANE Select | ENSP00000164139.3:n.1518+111del | |
| ENST00000164139.3:c.1518+111del | ENSP00000164139.3:n.1518+111del | |
| ENST00000377432.7:c.1254+111del | ENSP00000366650.3:n.1254+111del | |
| NM_001164716.1:c.1254+111del | NP_001158188.1:n.1254+111del | |
| NM_005609.2:c.1518+111del | NP_005600.1:n.1518+111del | |
| NM_005609.3:c.1518+111del | NP_005600.1:n.1518+111del | |
| NM_005609.4:c.1518+111del MANE Select | NP_005600.1:n.1518+111del |