Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168293110_168293111delinsCT , CM000663.2:g.168293110_168293111delinsCT | GRCh38 |
| NC_000001.10:g.168262348_168262349delinsCT , CM000663.1:g.168262348_168262349delinsCT | GRCh37 |
| NC_000001.9:g.166528972_166528973delinsCT | NCBI36 |
| NG_008244.1:g.17071_17072delinsCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367821.8:c.469-34_469-33delinsCT MANE Select | ENSP00000356795.3:n.469-34_469-33delinsCT... | |
| ENST00000367821.7:c.469-34_469-33delinsCT | ENSP00000356795.3:n.469-34_469-33delinsCT... | |
| ENST00000431969.5:c.266-34_266-33delinsCT | ||
| NM_005149.2:c.469-34_469-33delinsCT | NP_005140.1:n.469-34_469-33delinsCT | |
| NM_005149.3:c.469-34_469-33delinsCT MANE Select | NP_005140.1:n.469-34_469-33delinsCT |