Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94001944del , CM000663.2:g.94001944del | GRCh38 |
| NC_000001.10:g.94467500del , CM000663.1:g.94467500del | GRCh37 |
| NC_000001.9:g.94240088del | NCBI36 |
| NG_009073.1:g.124206del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6196del MANE Select | ENSP00000359245.3:p.Cys2066AlafsTer? | |
| ENST00000370225.3:c.6196del | ENSP00000359245.3:p.Cys2066AlafsTer? | |
| ENST00000465352.1:n.612del | ||
| ENST00000536513.5:c.2572del | ENSP00000439707.2:p.Cys858AlafsTer? | |
| NM_000350.2:c.6196del | NP_000341.2:p.Cys2066AlafsTer? | |
| NM_000350.3:c.6196del MANE Select | NP_000341.2:p.Cys2066AlafsTer? |