Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68249954del , CM000674.2:g.68249954del | GRCh38 |
| NC_000012.11:g.68643734del , CM000674.1:g.68643734del | GRCh37 |
| NC_000012.10:g.66930001del | NCBI36 |
| NG_060763.1:g.8654del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328087.6:c.463-1075del | ENSP00000329384.4:n.463-1075del | |
| ENST00000538666.6:c.463-1075del MANE Select | ENSP00000442424.1:n.463-1075del | |
| ENST00000328087.5:c.463-1075del | ENSP00000329384.4:n.463-1075del | |
| ENST00000538666.5:c.463-1075del | ENSP00000442424.1:n.463-1075del | |
| NM_020525.4:c.463-1075del | NP_065386.1:n.463-1075del | |
| XR_945055.1:n.265-14704del | ||
| NM_020525.5:c.463-1075del MANE Select | NP_065386.1:n.463-1075del | |
| XR_002957418.1:n.281-14704del |