Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56042603del , CM000674.2:g.56042603del | GRCh38 |
| NC_000012.11:g.56436387del , CM000674.1:g.56436387del | GRCh37 |
| NC_000012.10:g.54722654del | NCBI36 |
| NG_023201.1:g.5702del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.181+1del | ||
| ENST00000646449.2:c.181+1del | ||
| ENST00000356464.9:c.181+1del | ||
| ENST00000548590.1:n.209del | ||
| ENST00000552361.1:c.181+1del | ||
| NM_001029.3:c.181+1del | ||
| NM_001029.5:c.181+1del |