Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168293117_168293119delinsCCT , CM000663.2:g.168293117_168293119delinsCCT | GRCh38 |
| NC_000001.10:g.168262355_168262357delinsCCT , CM000663.1:g.168262355_168262357delinsCCT | GRCh37 |
| NC_000001.9:g.166528979_166528981delinsCCT | NCBI36 |
| NG_008244.1:g.17078_17080delinsCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367821.8:c.469-27_469-25delinsCCT MANE Select | ENSP00000356795.3:n.469-27_469-25delinsCCT | |
| ENST00000367821.7:c.469-27_469-25delinsCCT | ENSP00000356795.3:n.469-27_469-25delinsCCT | |
| ENST00000431969.5:c.266-27_266-25delinsCCT | ||
| NM_005149.2:c.469-27_469-25delinsCCT | NP_005140.1:n.469-27_469-25delinsCCT | |
| NM_005149.3:c.469-27_469-25delinsCCT MANE Select | NP_005140.1:n.469-27_469-25delinsCCT |