Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.44305789del , CM000667.2:g.44305789del | GRCh38 |
| NC_000005.9:g.44305891del , CM000667.1:g.44305891del | GRCh37 |
| NC_000005.8:g.44341648del | NCBI36 |
| NG_011446.1:g.87894del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264664.5:c.430-597del MANE Select | ENSP00000264664.4:n.430-597del | |
| ENST00000264664.4:c.430-597del | ENSP00000264664.4:n.430-597del | |
| NM_004465.1:c.430-597del | NP_004456.1:n.430-597del | |
| XM_005248264.2:c.430-597del | XP_005248321.1:n.430-597del | |
| XM_005248264.4:c.430-597del | XP_005248321.1:n.430-597del | |
| NM_004465.2:c.430-597del MANE Select | NP_004456.1:n.430-597del |