Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94060699_94062639del , CM000663.2:g.94060699_94062639del | GRCh38 |
| NC_000001.10:g.94526255_94528195del , CM000663.1:g.94526255_94528195del | GRCh37 |
| NC_000001.9:g.94298843_94300783del | NCBI36 |
| NG_009073.1:g.63512_65452del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.1876_1999del | ||
| ENST00000649773.1:c.1876_1999del | ||
| ENST00000370225.3:c.1876_1999del | ||
| ENST00000536513.5:c.-65+536_-65+2476del | ENSP00000439707.2:n.-65+536_-65+2476del | |
| NM_000350.2:c.1876_1999del | ||
| NM_000350.3:c.1876_1999del |