Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862839_4862840del , CM000666.2:g.4862839_4862840del | GRCh38 |
| NC_000004.11:g.4864566_4864567del , CM000666.1:g.4864566_4864567del | GRCh37 |
| NC_000004.10:g.4915467_4915468del | NCBI36 |
| NG_008121.1:g.8175_8176del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.608_609del MANE Select | ENSP00000372170.4:p.Ala203GlyfsTer10 | |
| ENST00000382723.4:c.608_609del | ENSP00000372170.4:p.Ala203GlyfsTer10 | |
| ENST00000468421.1:n.320_321del | ||
| NM_002448.3:c.608_609del MANE Select | NP_002439.2:p.Ala203GlyfsTer10 |