Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225684del , CM000673.2:g.5225684del | GRCh38 |
| NC_000011.9:g.5246914del , CM000673.1:g.5246914del | GRCh37 |
| NC_000011.8:g.5203490del | NCBI36 |
| NG_000007.3:g.71933del | |
| NG_059281.1:g.6389del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.359del | ENSP00000494175.1:p.Gly120AlafsTer? | |
| ENST00000335295.4:c.359del MANE Select | ENSP00000333994.3:p.Gly120AlafsTer? | |
| ENST00000475226.1:n.291del | ||
| ENST00000633227.1:c.*175del | ENSP00000488004.1:n.*175del | |
| NM_000518.4:c.359del | NP_000509.1:p.Gly120AlafsTer? | |
| NM_000518.5:c.359del MANE Select | NP_000509.1:p.Gly120AlafsTer? |