Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.93997885dup , CM000663.2:g.93997885dup | GRCh38 |
| NC_000001.10:g.94463441dup , CM000663.1:g.94463441dup | GRCh37 |
| NC_000001.9:g.94236029dup | NCBI36 |
| NG_009073.1:g.128265dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.6705dup MANE Select | NP_000341.2:p.Val2236SerfsTer15 |
| ENST00000370225.4:c.6705dup MANE Select | ENSP00000359245.3:p.Val2236SerfsTer15 |
| NM_000350.2:c.6705dup | NP_000341.2:p.Val2236SerfsTer15 |
| ENST00000370225.3:c.6705dup | ENSP00000359245.3:p.Val2236SerfsTer15 |
| ENST00000536513.5:c.3081dup | ENSP00000439707.2:p.Val1028SerfsTer15 |