Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6643577dup , CM000674.2:g.6643577dup | GRCh38 |
| NC_000012.11:g.6752743dup , CM000674.1:g.6752743dup | GRCh37 |
| NC_000012.10:g.6623004dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032489.3:c.1040dup MANE Select | NP_115878.2:p.Tyr348ValfsTer15 |
| ENST00000229243.7:c.1040dup MANE Select | ENSP00000229243.2:p.Tyr348ValfsTer15 |
| NM_032489.2:c.1040dup | NP_115878.2:p.Tyr348ValfsTer15 |
| ENST00000229243.6:c.1040dup | ENSP00000229243.2:p.Tyr348ValfsTer15 |
| ENST00000414226.6:c.941dup | ENSP00000402725.2:p.Tyr315ValfsTer15 |
| ENST00000542357.1:n.93dup |