Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429991_68429992insACAC , CM000663.2:g.68429991_68429992insACAC | GRCh38 |
| NC_000001.10:g.68895674_68895675insACAC , CM000663.1:g.68895674_68895675insACAC | GRCh37 |
| NC_000001.9:g.68668262_68668263insACAC | NCBI36 |
| NG_008472.1:g.24968_24969insGTGT | |
| NG_008472.2:g.24968_24969insGTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1451-65_1451-64insGTGT MANE Select | ENSP00000262340.5:n.1451-65_1451-64insGTGT | |
| ENST00000262340.5:c.1451-65_1451-64insGTGT | ENSP00000262340.5:n.1451-65_1451-64insGTGT | |
| NM_000329.2:c.1451-65_1451-64insGTGT | NP_000320.1:n.1451-65_1451-64insGTGT | |
| XM_017002027.1:c.1175-65_1175-64insGTGT | XP_016857516.1:n.1175-65_1175-64insGTGT | |
| NM_000329.3:c.1451-65_1451-64insGTGT MANE Select | NP_000320.1:n.1451-65_1451-64insGTGT |