Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152846_80152966del , CM000677.2:g.80152846_80152966del | GRCh38 |
| NC_000015.9:g.80445188_80445308del , CM000677.1:g.80445188_80445308del | GRCh37 |
| NC_000015.8:g.78232243_78232363del | NCBI36 |
| NG_012833.1:g.4848_4968del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.-209_-89del | ENSP00000507680.1:n.-209_-89del | |
| ENST00000261755.9:c.-30+5_-29-60del | ENSP00000261755.5:n.-30+5_-29-60del | |
| ENST00000407106.5:c.-89_-29-60del | ||
| ENST00000537726.5:n.53+5_54-60del | ||
| ENST00000558022.5:c.-29-180_-29-60del | ENSP00000453152.1:n.-29-180_-29-60del | |
| ENST00000558767.5:n.53_173del | ||
| XM_024449872.1:c.-89_-29-60del | ||
| NM_001374377.1:c.-89_-29-60del | ||
| NM_001374380.1:c.-30+5_-29-60del | NP_001361309.1:n.-30+5_-29-60del |