Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71719780del , CM000667.2:g.71719780del | GRCh38 |
| NC_000005.9:g.71015607del , CM000667.1:g.71015607del | GRCh37 |
| NC_000005.8:g.71051363del | NCBI36 |
| NG_015988.1:g.5618del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296777.5:c.160-100del MANE Select | ENSP00000296777.4:n.160-100del | |
| ENST00000296777.4:c.160-100del | ENSP00000296777.4:n.160-100del | |
| ENST00000513096.1:n.202del | ||
| NM_004291.3:c.160-100del | NP_004282.1:n.160-100del | |
| NM_004291.4:c.160-100del MANE Select | NP_004282.1:n.160-100del |