Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151666312_151666313del , CM000668.2:g.151666312_151666313del | GRCh38 |
| NC_000006.11:g.151987447_151987448del , CM000668.1:g.151987447_151987448del | GRCh37 |
| NC_000006.10:g.152029140_152029141del | NCBI36 |
| NG_008493.2:g.14622_14623del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000473497.5:n.73+9549_73+9550del | ||
| XM_017010376.1:c.-202+9549_-202+9550del | XP_016865865.1:n.-202+9549_-202+9550del | |
| XM_017010377.1:c.-260-78_-260-77del | XP_016865866.1:n.-260-78_-260-77del | |
| XM_017010380.1:c.-71+9549_-71+9550del | XP_016865869.1:n.-71+9549_-71+9550del | |
| NM_001385568.1:c.-202+9549_-202+9550del | NP_001372497.1:n.-202+9549_-202+9550del |