Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17393949_17393952del , CM000663.2:g.17393949_17393952del | GRCh38 |
| NC_000001.10:g.17720445_17720448del , CM000663.1:g.17720445_17720448del | GRCh37 |
| NC_000001.9:g.17593032_17593035del | NCBI36 |
| NG_032943.1:g.26704_26707del | |
| NG_032943.2:g.26704_26707del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000619609.1:c.1075-26_1075-23del MANE Select | ENSP00000483125.1:n.1075-26_1075-23del | |
| NM_207421.4:c.1075-26_1075-23del MANE Select | NP_997304.3:n.1075-26_1075-23del |