Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152857_80152950del , CM000677.2:g.80152857_80152950del | GRCh38 |
| NC_000015.9:g.80445199_80445292del , CM000677.1:g.80445199_80445292del | GRCh37 |
| NC_000015.8:g.78232254_78232347del | NCBI36 |
| NG_012833.1:g.4859_4952del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.-198_-105del | ENSP00000507680.1:n.-198_-105del | |
| ENST00000261755.9:c.-30+16_-29-76del | ENSP00000261755.5:n.-30+16_-29-76del | |
| ENST00000407106.5:c.-78_-30+45del | ||
| ENST00000537726.5:n.53+16_54-76del | ||
| ENST00000558022.5:c.-29-169_-29-76del | ENSP00000453152.1:n.-29-169_-29-76del | |
| ENST00000558767.5:n.64_157del | ||
| ENST00000561369.1:n.3_51+45del | ||
| XM_024449872.1:c.-78_-30+45del | ||
| NM_001374377.1:c.-78_-30+45del | ||
| NM_001374380.1:c.-30+16_-29-76del | NP_001361309.1:n.-30+16_-29-76del |