Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862886_4862890del , CM000666.2:g.4862886_4862890del | GRCh38 |
| NC_000004.11:g.4864613_4864617del , CM000666.1:g.4864613_4864617del | GRCh37 |
| NC_000004.10:g.4915514_4915518del | NCBI36 |
| NG_008121.1:g.8222_8226del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.655_659del MANE Select | ENSP00000372170.4:p.Trp219ProfsTer? | |
| ENST00000382723.4:c.655_659del | ENSP00000372170.4:p.Trp219ProfsTer? | |
| ENST00000468421.1:n.367_371del | ||
| NM_002448.3:c.655_659del MANE Select | NP_002439.2:p.Trp219ProfsTer? |