Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.23645131_23645132delinsAA , CM000677.2:g.23645131_23645132delinsAA | GRCh38 |
| NC_000015.9:g.23890278_23890279delinsAA , CM000677.1:g.23890278_23890279delinsAA | GRCh37 |
| NC_000015.8:g.21441371_21441372delinsAA | NCBI36 |
| NG_016776.1:g.7715_7716delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019066.5:c.2611_2612delinsTT MANE Select | NP_061939.3:p.Ala871Phe |
| ENST00000650528.1:c.2611_2612delinsTT MANE Select | ENSP00000497810.1:p.Ala871Phe |
| NM_019066.4:c.2611_2612delinsTT | NP_061939.3:p.Ala871Phe |
| ENST00000532292.2:c.2611_2612delinsTT | ENSP00000433433.2:p.Ala871Phe |