Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207454010_207454011del , CM000663.2:g.207454010_207454011del | GRCh38 |
| NC_000001.10:g.207627355_207627356del , CM000663.1:g.207627355_207627356del | GRCh37 |
| NC_000001.9:g.205693978_205693979del | NCBI36 |
| NG_013006.1:g.4711_4712del , LRG_348:g.4711_4712del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699640.1:c.-385+915_-385+916del | ENSP00000514493.1:n.-385+915_-385+916del |