Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.18991182_18991183del , CM000686.2:g.18991182_18991183del | GRCh38 |
| NC_000024.9:g.21153068_21153069del , CM000686.1:g.21153068_21153069del | GRCh37 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_001543.4:n.504-58342_504-58341del | |
| NR_125733.1:n.579-57708_579-57707del | |
| NR_125734.1:n.578+77541_578+77542del | |
| NR_125735.1:n.503+85862_503+85863del | |
| NR_125736.1:n.138+77541_138+77542del | |
| NR_125737.1:n.139-58342_139-58341del | |
| NR_125737.2:n.139-58342_139-58341del | |
| NR_158640.1:n.152+82316_152+82317del | |
| NR_158641.1:n.368+53359_368+53360del |