Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226728del , CM000673.2:g.5226728del | GRCh38 |
| NC_000011.9:g.5247958del , CM000673.1:g.5247958del | GRCh37 |
| NC_000011.8:g.5204534del | NCBI36 |
| NG_000007.3:g.70889del | |
| NG_059281.1:g.5345del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.165del MANE Select | NP_000509.1:p.Met56TrpfsTer6 |
| ENST00000335295.4:c.165del MANE Select | ENSP00000333994.3:p.Met56TrpfsTer6 |
| NM_000518.4:c.165del | NP_000509.1:p.Met56TrpfsTer6 |
| ENST00000380315.2:c.165del | ENSP00000369671.2:p.Met56TrpfsTer6 |
| ENST00000475226.1:n.97del | |
| ENST00000485743.1:n.216del | |
| ENST00000633227.1:c.149del | ENSP00000488004.1:p.Leu50TyrfsTer5 |
| ENST00000647020.1:c.165del | ENSP00000494175.1:p.Met56TrpfsTer6 |