Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6870026_6870057del , CM000674.2:g.6870026_6870057del | GRCh38 |
| NC_000012.11:g.6979190_6979221del , CM000674.1:g.6979190_6979221del | GRCh37 |
| NC_000012.10:g.6849451_6849482del | NCBI36 |
| NG_011948.1:g.7607_7638del | |
| NG_013308.1:g.8302_8333del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396705.10:c.544-23_552del | ||
| ENST00000229270.8:c.655-23_663del | ||
| ENST00000396705.9:c.544-23_552del | ||
| ENST00000474253.1:n.10_41del | ||
| ENST00000482209.1:n.227-10_248del | ||
| ENST00000488464.6:c.298-23_306del | ||
| ENST00000493987.5:c.298-23_306del | ||
| ENST00000535434.5:c.298-23_306del | ||
| ENST00000613953.4:c.655-23_663del | ||
| NM_000365.5:c.544-23_552del | ||
| NM_001159287.1:c.655-23_663del | ||
| NM_001258026.1:c.298-23_306del | ||
| XR_002957378.1:n.1529_1560del | ||
| NM_000365.6:c.544-23_552del | ||
| NM_001258026.2:c.298-23_306del |