Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12081503dup , CM000672.2:g.12081503dup | GRCh38 |
| NC_000010.10:g.12123502dup , CM000672.1:g.12123502dup | GRCh37 |
| NC_000010.9:g.12163508dup | NCBI36 |
| NG_033248.1:g.17587dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018706.7:c.186dup MANE Select | NP_061176.4:p.Tyr63IlefsTer3 |
| ENST00000263035.9:c.186dup MANE Select | ENSP00000263035.4:p.Tyr63IlefsTer3 |
| NM_018706.6:c.186dup | NP_061176.3:p.Tyr63IlefsTer3 |
| ENST00000263035.8:c.186dup | ENSP00000263035.4:p.Tyr63IlefsTer3 |
| ENST00000437298.1:c.186dup | ENSP00000388163.1:p.Tyr63IlefsTer3 |