Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152881_80152971del , CM000677.2:g.80152881_80152971del | GRCh38 |
| NC_000015.9:g.80445223_80445313del , CM000677.1:g.80445223_80445313del | GRCh37 |
| NC_000015.8:g.78232278_78232368del | NCBI36 |
| NG_012833.1:g.4883_4973del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.-174_-84del | ENSP00000507680.1:n.-174_-84del | |
| ENST00000261755.9:c.-30+40_-29-55del | ENSP00000261755.5:n.-30+40_-29-55del | |
| ENST00000407106.5:c.-54_-29-55del | ||
| ENST00000537726.5:n.53+40_54-55del | ||
| ENST00000558022.5:c.-29-145_-29-55del | ENSP00000453152.1:n.-29-145_-29-55del | |
| ENST00000558767.5:n.88_178del | ||
| ENST00000561369.1:n.27_52-55del | ||
| XM_024449872.1:c.-54_-29-55del | ||
| NM_001374377.1:c.-54_-29-55del | ||
| NM_001374380.1:c.-30+40_-29-55del | NP_001361309.1:n.-30+40_-29-55del |