Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226606_5226620del , CM000673.2:g.5226606_5226620del | GRCh38 |
| NC_000011.9:g.5247836_5247850del , CM000673.1:g.5247836_5247850del | GRCh37 |
| NC_000011.8:g.5204412_5204426del | NCBI36 |
| NG_000007.3:g.71004_71018del | |
| NG_059281.1:g.5460_5474del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.280_294del MANE Select | NP_000509.1:p.Cys94_His98del |
| ENST00000335295.4:c.280_294del MANE Select | ENSP00000333994.3:p.Cys94_His98del |
| NM_000518.4:c.280_294del | NP_000509.1:p.Cys94_His98del |
| ENST00000475226.1:n.212_226del | |
| ENST00000485743.1:n.331_345del | |
| ENST00000633227.1:c.*96_*110del | ENSP00000488004.1:n.*96_*110del |
| ENST00000647020.1:c.280_294del | ENSP00000494175.1:p.Cys94_His98del |