Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42722086_42722089del , CM000668.2:g.42722086_42722089del | GRCh38 |
| NC_000006.11:g.42689824_42689827del , CM000668.1:g.42689824_42689827del | GRCh37 |
| NC_000006.10:g.42797802_42797805del | NCBI36 |
| NG_009176.1:g.5532_5535del | |
| NG_009176.2:g.5532_5535del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.246_249del MANE Select | ENSP00000230381.5:p.Cys82TrpfsTer16 | |
| ENST00000230381.6:c.246_249del | ENSP00000230381.5:p.Cys82TrpfsTer16 | |
| NM_000322.4:c.246_249del | NP_000313.2:p.Cys82TrpfsTer16 | |
| XR_427834.2:n.901_904del | ||
| XR_926295.1:n.901_904del | ||
| XR_427834.4:n.951_954del | ||
| XR_926295.3:n.951_954del | ||
| NM_000322.5:c.246_249del MANE Select | NP_000313.2:p.Cys82TrpfsTer16 |