Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44558989_44558990delinsTT , CM000679.2:g.44558989_44558990delinsTT | GRCh38 |
| NC_000017.10:g.42636357_42636358delinsTT , CM000679.1:g.42636357_42636358delinsTT | GRCh37 |
| NC_000017.9:g.39991883_39991884delinsTT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315323.5:c.1301_1302delinsTT MANE Select | ENSP00000323901.3:p.Gly434Val | |
| ENST00000315323.4:c.1301_1302delinsTT | ENSP00000323901.3:p.Gly434Val | |
| NM_001466.3:c.1301_1302delinsTT | NP_001457.1:p.Gly434Val | |
| NM_001466.4:c.1301_1302delinsTT MANE Select | NP_001457.1:p.Gly434Val |