Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.228158453_228158454insG , CM000663.2:g.228158453_228158454insG | GRCh38 |
| NC_000001.10:g.228346154_228346155insG , CM000663.1:g.228346154_228346155insG | GRCh37 |
| NC_000001.9:g.226412777_226412778insG | NCBI36 |
| NG_011838.1:g.13602_13603insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366714.3:c.695_696insG MANE Select | ENSP00000355675.2:p.Tyr232Ter | |
| ENST00000366714.2:c.695_696insG | ENSP00000355675.2:p.Tyr232Ter | |
| NM_020435.3:c.695_696insG | NP_065168.2:p.Tyr232Ter | |
| NM_020435.4:c.695_696insG MANE Select | NP_065168.2:p.Tyr232Ter |