Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152846_80152954del , CM000677.2:g.80152846_80152954del | GRCh38 |
| NC_000015.9:g.80445188_80445296del , CM000677.1:g.80445188_80445296del | GRCh37 |
| NC_000015.8:g.78232243_78232351del | NCBI36 |
| NG_012833.1:g.4848_4956del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.-209_-101del | ENSP00000507680.1:n.-209_-101del | |
| ENST00000261755.9:c.-30+5_-29-72del | ENSP00000261755.5:n.-30+5_-29-72del | |
| ENST00000407106.5:c.-89_-30+49del | ||
| ENST00000537726.5:n.53+5_54-72del | ||
| ENST00000558022.5:c.-29-180_-29-72del | ENSP00000453152.1:n.-29-180_-29-72del | |
| ENST00000558767.5:n.53_161del | ||
| XM_024449872.1:c.-89_-30+49del | ||
| NM_001374377.1:c.-89_-30+49del | ||
| NM_001374380.1:c.-30+5_-29-72del | NP_001361309.1:n.-30+5_-29-72del |