Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429799_68429800delinsGA , CM000663.2:g.68429799_68429800delinsGA | GRCh38 |
| NC_000001.10:g.68895482_68895483delinsGA , CM000663.1:g.68895482_68895483delinsGA | GRCh37 |
| NC_000001.9:g.68668070_68668071delinsGA | NCBI36 |
| NG_008472.1:g.25160_25161delinsTC | |
| NG_008472.2:g.25160_25161delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1578_1579delinsTC MANE Select | ENSP00000262340.5:p.Phe526= | |
| ENST00000262340.5:c.1578_1579delinsTC | ENSP00000262340.5:p.Phe526= | |
| NM_000329.2:c.1578_1579delinsTC | NP_000320.1:p.Phe526= | |
| XM_017002027.1:c.1302_1303delinsTC | XP_016857516.1:p.Phe434= | |
| NM_000329.3:c.1578_1579delinsTC MANE Select | NP_000320.1:p.Phe526= |