Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74493460_74493493del , CM000676.2:g.74493460_74493493del | GRCh38 |
| NC_000014.8:g.74960163_74960196del , CM000676.1:g.74960163_74960196del | GRCh37 |
| NC_000014.7:g.74029916_74029949del | NCBI36 |
| NG_007117.1:g.4893_4926del | |
| NG_033074.1:g.4741_4774del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555592.1:c.-64+81_-64+114del | ENSP00000450887.1:n.-64+81_-64+114del | |
| ENST00000555619.5:c.-215_-182del | ENSP00000451112.1:n.-215_-182del | |
| ENST00000556009.5:c.147+542_147+575del | ||
| NM_001363688.1:c.-215_-182del | NP_001350617.1:n.-215_-182del | |
| NM_006432.4:c.-215_-182del | NP_006423.1:n.-215_-182del |