Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584090_41584091insC , CM000679.2:g.41584090_41584091insC | GRCh38 |
| NC_000017.10:g.39740342_39740343insC , CM000679.1:g.39740342_39740343insC | GRCh37 |
| NC_000017.9:g.36993868_36993869insC | NCBI36 |
| NG_008624.1:g.7805_7806insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.765+166_765+167insG MANE Select | ENSP00000167586.6:n.765+166_765+167insG | |
| ENST00000167586.6:c.765+166_765+167insG | ENSP00000167586.6:n.765+166_765+167insG | |
| ENST00000476662.1:n.215+166_215+167insG | ||
| NM_000526.4:c.765+166_765+167insG | NP_000517.2:n.765+166_765+167insG | |
| NM_000526.5:c.765+166_765+167insG MANE Select | NP_000517.3:n.765+166_765+167insG |