Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226693del , CM000673.2:g.5226693del | GRCh38 |
| NC_000011.9:g.5247923del , CM000673.1:g.5247923del | GRCh37 |
| NC_000011.8:g.5204499del | NCBI36 |
| NG_000007.3:g.70925del | |
| NG_059281.1:g.5381del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.201del MANE Select | NP_000509.1:p.Val68CysfsTer22 |
| ENST00000335295.4:c.201del MANE Select | ENSP00000333994.3:p.Val68CysfsTer22 |
| NM_000518.4:c.201del | NP_000509.1:p.Val68CysfsTer22 |
| ENST00000380315.2:c.201del | ENSP00000369671.2:p.Val68CysfsTer22 |
| ENST00000475226.1:n.133del | |
| ENST00000485743.1:n.252del | |
| ENST00000633227.1:c.*17del | ENSP00000488004.1:n.*17del |
| ENST00000647020.1:c.201del | ENSP00000494175.1:p.Val68CysfsTer22 |