Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152844_80152881del , CM000677.2:g.80152844_80152881del | GRCh38 |
| NC_000015.9:g.80445186_80445223del , CM000677.1:g.80445186_80445223del | GRCh37 |
| NC_000015.8:g.78232241_78232278del | NCBI36 |
| NG_012833.1:g.4846_4883del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.-211_-174del | ENSP00000507680.1:n.-211_-174del | |
| ENST00000261755.9:c.-30+3_-30+40del | ||
| ENST00000407106.5:c.-91_-54del | ENSP00000385080.1:n.-91_-54del | |
| ENST00000537726.5:n.53+3_53+40del | ||
| ENST00000558022.5:c.-29-182_-29-145del | ENSP00000453152.1:n.-29-182_-29-145del | |
| ENST00000558767.5:n.51_88del | ||
| XM_024449872.1:c.-91_-54del | XP_024305640.1:n.-91_-54del | |
| NM_001374377.1:c.-91_-54del | NP_001361306.1:n.-91_-54del | |
| NM_001374380.1:c.-30+3_-30+40del |