Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22116013del , CM000671.2:g.22116013del | GRCh38 |
| NC_000009.11:g.22116012del , CM000671.1:g.22116012del | GRCh37 |
| NC_000009.10:g.22106012del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003529.3:n.2908+2214del | ||
| NR_047532.1:n.1697+2214del | ||
| NR_047534.1:n.961+2214del | ||
| NR_047535.1:n.857-2631del | ||
| NR_047536.1:n.721-2631del | ||
| NR_047537.1:n.781-4187del | ||
| NR_047538.1:n.645-4187del | ||
| NR_047543.1:n.990+2214del | ||
| NR_120536.1:n.645-4491del |