Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225712del , CM000673.2:g.5225712del | GRCh38 |
| NC_000011.9:g.5246942del , CM000673.1:g.5246942del | GRCh37 |
| NC_000011.8:g.5203518del | NCBI36 |
| NG_000007.3:g.71904del | |
| NG_059281.1:g.6360del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.330del | ENSP00000494175.1:p.Leu111TrpfsTer? | |
| ENST00000335295.4:c.330del MANE Select | ENSP00000333994.3:p.Leu111TrpfsTer? | |
| ENST00000475226.1:n.262del | ||
| ENST00000633227.1:c.*146del | ENSP00000488004.1:n.*146del | |
| NM_000518.4:c.330del | NP_000509.1:p.Leu111TrpfsTer? | |
| NM_000518.5:c.330del MANE Select | NP_000509.1:p.Leu111TrpfsTer? |