Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152862_80152977del , CM000677.2:g.80152862_80152977del | GRCh38 |
| NC_000015.9:g.80445204_80445319del , CM000677.1:g.80445204_80445319del | GRCh37 |
| NC_000015.8:g.78232259_78232374del | NCBI36 |
| NG_012833.1:g.4864_4979del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.-193_-78del | ENSP00000507680.1:n.-193_-78del | |
| ENST00000261755.9:c.-30+21_-29-49del | ENSP00000261755.5:n.-30+21_-29-49del | |
| ENST00000407106.5:c.-73_-29-49del | ||
| ENST00000537726.5:n.53+21_54-49del | ||
| ENST00000558022.5:c.-29-164_-29-49del | ENSP00000453152.1:n.-29-164_-29-49del | |
| ENST00000558767.5:n.69_184del | ||
| ENST00000561369.1:n.8_52-49del | ||
| XM_024449872.1:c.-73_-29-49del | ||
| NM_001374377.1:c.-73_-29-49del | ||
| NM_001374380.1:c.-30+21_-29-49del | NP_001361309.1:n.-30+21_-29-49del |