Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27095695_27095697delinsTGATGG , CM000669.2:g.27095695_27095697delinsTGATGG | GRCh38 |
| NC_000007.13:g.27135314_27135316delinsTGATGG , CM000669.1:g.27135314_27135316delinsTGATGG | GRCh37 |
| NC_000007.12:g.27101839_27101841delinsTGATGG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643460.2:c.216_218delinsCCATCA MANE Select | ENSP00000494260.2:p.Arg73delinsHisHis | |
| ENST00000343060.4:c.216_218delinsCCATCA | ENSP00000343246.4:p.Arg73delinsHisHis | |
| ENST00000355633.5:c.216_218delinsCCATCA | ENSP00000347851.5:p.Arg73delinsHisHis | |
| NM_005522.5:c.216_218delinsCCATCA MANE Select | NP_005513.2:p.Arg73delinsHisHis | |
| NM_153620.3:c.216_218delinsCCATCA | NP_705873.3:p.Arg73delinsHisHis |