Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100650041del , CM000669.2:g.100650041del | GRCh38 |
| NC_000007.13:g.100247664del , CM000669.1:g.100247664del | GRCh37 |
| NC_000007.12:g.100085600del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000160382.10:c.465del MANE Select | ENSP00000160382.5:p.Ala156ProfsTer? | |
| ENST00000160382.9:c.465del | ENSP00000160382.5:p.Ala156ProfsTer? | |
| ENST00000485601.5:n.546del | ||
| ENST00000487225.5:n.693del | ||
| ENST00000489904.1:n.230del | ||
| NM_016188.4:c.465del | NP_057272.1:p.Ala156ProfsTer? | |
| XR_927476.1:n.572del | ||
| NR_134539.1:n.572del | ||
| NM_016188.5:c.465del MANE Select | NP_057272.1:p.Ala156ProfsTer? | |
| NR_134539.2:n.559del |