Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.52864958del , CM000667.2:g.52864958del | GRCh38 |
| NC_000005.9:g.52160792del , CM000667.1:g.52160792del | GRCh37 |
| NC_000005.8:g.52196549del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282588.7:c.385-13del MANE Select | ENSP00000282588.5:n.385-13del | |
| ENST00000650673.1:c.385-13del | ENSP00000498529.1:n.385-13del | |
| ENST00000282588.6:c.385-13del | ENSP00000282588.5:n.385-13del | |
| ENST00000513737.5:n.136-13del | ||
| ENST00000514262.5:n.136-13del | ||
| NM_181501.1:c.385-13del | NP_852478.1:n.385-13del | |
| NM_181501.2:c.385-13del MANE Select | NP_852478.1:n.385-13del |