Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22056499_22056500del , CM000671.2:g.22056499_22056500del | GRCh38 |
| NC_000009.11:g.22056498_22056499del , CM000671.1:g.22056498_22056499del | GRCh37 |
| NC_000009.10:g.22046498_22046499del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_003529.3:n.1388+112_1388+113del | ||
| NR_047532.1:n.1075+112_1075+113del | ||
| NR_047533.1:n.644+7271_644+7272del | ||
| NR_047534.1:n.644+7271_644+7272del | ||
| NR_047535.1:n.780+112_780+113del | ||
| NR_047536.1:n.644+7271_644+7272del | ||
| NR_047537.1:n.780+112_780+113del | ||
| NR_047538.1:n.644+7271_644+7272del | ||
| NR_047539.1:n.1388+112_1388+113del | ||
| NR_047540.1:n.780+112_780+113del | ||
| NR_047541.1:n.780+112_780+113del | ||
| NR_047542.1:n.780+112_780+113del | ||
| NR_047543.1:n.780+112_780+113del | ||
| NR_120536.1:n.644+7271_644+7272del |