Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110717319del , CM000674.2:g.110717319del | GRCh38 |
| NC_000012.11:g.111155124del , CM000674.1:g.111155124del | GRCh37 |
| NC_000012.10:g.109639507del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011538504.1:c.944-2172del | XP_011536806.1:n.944-2172del | |
| XM_011538505.1:c.943+3786del | XP_011536807.1:n.943+3786del | |
| XM_011538504.3:c.944-2172del | XP_011536806.1:n.944-2172del | |
| XM_011538505.3:c.943+3786del | XP_011536807.1:n.943+3786del |