Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168293293_168293294insCG , CM000663.2:g.168293293_168293294insCG | GRCh38 |
| NC_000001.10:g.168262531_168262532insCG , CM000663.1:g.168262531_168262532insCG | GRCh37 |
| NC_000001.9:g.166529155_166529156insCG | NCBI36 |
| NG_008244.1:g.17254_17255insCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367821.8:c.603+15_603+16insCG MANE Select | ENSP00000356795.3:n.603+15_603+16insCG | |
| ENST00000367821.7:c.603+15_603+16insCG | ENSP00000356795.3:n.603+15_603+16insCG | |
| ENST00000431969.5:c.400+15_400+16insCG | ||
| NM_005149.2:c.603+15_603+16insCG | NP_005140.1:n.603+15_603+16insCG | |
| NM_005149.3:c.603+15_603+16insCG MANE Select | NP_005140.1:n.603+15_603+16insCG |