Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60649631_60649663del , CM000676.2:g.60649631_60649663del | GRCh38 |
| NC_000014.8:g.61116349_61116381del , CM000676.1:g.61116349_61116381del | GRCh37 |
| NC_000014.7:g.60186102_60186134del | NCBI36 |
| NG_008231.1:g.4782_4814del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553535.2:n.248+2279_248+2311del | ||
| ENST00000554986.2:c.42-3079_42-3047del | ENSP00000452700.2:n.42-3079_42-3047del | |
| ENST00000555955.3:n.1197+2279_1197+2311del |