Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152861_80152963del , CM000677.2:g.80152861_80152963del | GRCh38 |
| NC_000015.9:g.80445203_80445305del , CM000677.1:g.80445203_80445305del | GRCh37 |
| NC_000015.8:g.78232258_78232360del | NCBI36 |
| NG_012833.1:g.4863_4965del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.-194_-92del | ENSP00000507680.1:n.-194_-92del | |
| ENST00000261755.9:c.-30+20_-29-63del | ENSP00000261755.5:n.-30+20_-29-63del | |
| ENST00000407106.5:c.-74_-30+58del | ||
| ENST00000537726.5:n.53+20_54-63del | ||
| ENST00000558022.5:c.-29-165_-29-63del | ENSP00000453152.1:n.-29-165_-29-63del | |
| ENST00000558767.5:n.68_170del | ||
| XM_024449872.1:c.-74_-30+58del | ||
| NM_001374377.1:c.-74_-30+58del | ||
| NM_001374380.1:c.-30+20_-29-63del | NP_001361309.1:n.-30+20_-29-63del |