Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94030522_94030544del , CM000663.2:g.94030522_94030544del | GRCh38 |
| NC_000001.10:g.94496078_94496100del , CM000663.1:g.94496078_94496100del | GRCh37 |
| NC_000001.9:g.94268666_94268688del | NCBI36 |
| NG_009073.1:g.95609_95631del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4254-15_4261del | ||
| ENST00000370225.3:c.4254-15_4261del | ||
| ENST00000536513.5:c.630-15_637del | ||
| NM_000350.2:c.4254-15_4261del | ||
| NM_000350.3:c.4254-15_4261del |