Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68446753_68446754delinsAA , CM000663.2:g.68446753_68446754delinsAA | GRCh38 |
| NC_000001.10:g.68912436_68912437delinsAA , CM000663.1:g.68912436_68912437delinsAA | GRCh37 |
| NC_000001.9:g.68685024_68685025delinsAA | NCBI36 |
| NG_008472.1:g.8206_8207delinsTT | |
| NG_008472.2:g.8206_8207delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.201_202delinsTT MANE Select | ENSP00000262340.5:p.His68Tyr | |
| ENST00000262340.5:c.201_202delinsTT | ENSP00000262340.5:p.His68Tyr | |
| NM_000329.2:c.201_202delinsTT | NP_000320.1:p.His68Tyr | |
| XM_017002027.1:c.-31-1871_-31-1870delinsTT | XP_016857516.1:n.-31-1871_-31-1870delinsTT | |
| NM_000329.3:c.201_202delinsTT MANE Select | NP_000320.1:p.His68Tyr |