Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226689_5226690del , CM000673.2:g.5226689_5226690del | GRCh38 |
| NC_000011.9:g.5247919_5247920del , CM000673.1:g.5247919_5247920del | GRCh37 |
| NC_000011.8:g.5204495_5204496del | NCBI36 |
| NG_000007.3:g.70927_70928del | |
| NG_059281.1:g.5383_5384del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.203_204del MANE Select | NP_000509.1:p.Val68AlafsTer5 |
| ENST00000335295.4:c.203_204del MANE Select | ENSP00000333994.3:p.Val68AlafsTer5 |
| NM_000518.4:c.203_204del | NP_000509.1:p.Val68AlafsTer5 |
| ENST00000380315.2:c.203_204del | ENSP00000369671.2:p.Val68AlafsTer5 |
| ENST00000475226.1:n.135_136del | |
| ENST00000485743.1:n.254_255del | |
| ENST00000633227.1:c.*19_*20del | ENSP00000488004.1:n.*19_*20del |
| ENST00000647020.1:c.203_204del | ENSP00000494175.1:p.Val68AlafsTer5 |