Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226598_5226601dup , CM000673.2:g.5226598_5226601dup | GRCh38 |
| NC_000011.9:g.5247828_5247831dup , CM000673.1:g.5247828_5247831dup | GRCh37 |
| NC_000011.8:g.5204404_5204407dup | NCBI36 |
| NG_000007.3:g.71016_71019dup | |
| NG_059281.1:g.5472_5475dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.292_295dup | ENSP00000494175.1:p.Val99AlafsTer5 | |
| ENST00000335295.4:c.292_295dup MANE Select | ENSP00000333994.3:p.Val99AlafsTer5 | |
| ENST00000475226.1:n.224_227dup | ||
| ENST00000485743.1:n.343_346dup | ||
| ENST00000633227.1:c.*108_*111dup | ENSP00000488004.1:n.*108_*111dup | |
| NM_000518.4:c.292_295dup | NP_000509.1:p.Val99AlafsTer5 | |
| NM_000518.5:c.292_295dup MANE Select | NP_000509.1:p.Val99AlafsTer5 |