Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.145674dup , CM000682.2:g.145674dup | GRCh38 |
| NC_000020.10:g.126315dup , CM000682.1:g.126315dup | GRCh37 |
| NC_000020.9:g.74315dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382398.4:c.318dup MANE Select | ENSP00000371835.3:p.Val107ArgfsTer? | |
| ENST00000382398.3:c.318dup | ENSP00000371835.3:p.Val107ArgfsTer? | |
| ENST00000542572.1:n.223dup | ||
| NM_030931.3:c.318dup | NP_112193.1:p.Val107ArgfsTer? | |
| NM_030931.4:c.318dup MANE Select | NP_112193.1:p.Val107ArgfsTer? |