Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.42688263dup , CM000665.2:g.42688263dup | GRCh38 |
| NC_000003.11:g.42729755dup , CM000665.1:g.42729755dup | GRCh37 |
| NC_000003.10:g.42704759dup | NCBI36 |
| NG_033035.1:g.7745dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287777.5:c.1274dup MANE Select | ENSP00000287777.4:p.Glu426ArgfsTer19 | |
| ENST00000287777.4:c.1274dup | ENSP00000287777.4:p.Glu426ArgfsTer19 | |
| NM_152393.3:c.1274dup | NP_689606.2:p.Glu426ArgfsTer19 | |
| XM_005264866.2:c.1274dup | XP_005264923.1:p.Glu426ArgfsTer23 | |
| NM_152393.4:c.1274dup MANE Select | NP_689606.2:p.Glu426ArgfsTer19 |