Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152877_80152959del , CM000677.2:g.80152877_80152959del | GRCh38 |
| NC_000015.9:g.80445219_80445301del , CM000677.1:g.80445219_80445301del | GRCh37 |
| NC_000015.8:g.78232274_78232356del | NCBI36 |
| NG_012833.1:g.4879_4961del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.-178_-96del | ENSP00000507680.1:n.-178_-96del | |
| ENST00000261755.9:c.-30+36_-29-67del | ENSP00000261755.5:n.-30+36_-29-67del | |
| ENST00000407106.5:c.-58_-30+54del | ||
| ENST00000537726.5:n.53+36_54-67del | ||
| ENST00000558022.5:c.-29-149_-29-67del | ENSP00000453152.1:n.-29-149_-29-67del | |
| ENST00000558767.5:n.84_166del | ||
| ENST00000561369.1:n.23_51+54del | ||
| XM_024449872.1:c.-58_-30+54del | ||
| NM_001374377.1:c.-58_-30+54del | ||
| NM_001374380.1:c.-30+36_-29-67del | NP_001361309.1:n.-30+36_-29-67del |