Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.106940401_106940402del , CM000685.2:g.106940401_106940402del | GRCh38 |
| NC_000023.10:g.106183631_106183632del , CM000685.1:g.106183631_106183632del | GRCh37 |
| NC_000023.9:g.106070287_106070288del | NCBI36 |
| NG_016392.1:g.64843_64844del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000604604.1:c.111+52828_111+52829del | ||
| XM_005262190.3:c.*1077_*1078del | XP_005262247.1:n.*1077_*1078del | |
| XM_006724691.2:c.*1077_*1078del | XP_006724754.1:n.*1077_*1078del | |
| XM_011531027.2:c.*1077_*1078del | XP_011529329.1:n.*1077_*1078del | |
| XM_017029844.1:c.*1150_*1151del | XP_016885333.1:n.*1150_*1151del |