Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461976_122461978delinsCCT , CM000672.2:g.122461976_122461978delinsCCT | GRCh38 |
| NC_000010.10:g.124221492_124221494delinsCCT , CM000672.1:g.124221492_124221494delinsCCT | GRCh37 |
| NC_000010.9:g.124211482_124211484delinsCCT | NCBI36 |
| NG_011554.1:g.5452_5454delinsCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.324_326delinsCCT MANE Select | ENSP00000357980.3:p.Gly108= | |
| ENST00000648167.1:c.154+3267_154+3269delinsCCT | ENSP00000498033.1:n.154+3267_154+3269delinsCCT | |
| ENST00000368984.7:c.324_326delinsCCT | ENSP00000357980.3:p.Gly108= | |
| NM_002775.4:c.324_326delinsCCT | NP_002766.1:p.Gly108= | |
| NM_002775.5:c.324_326delinsCCT MANE Select | NP_002766.1:p.Gly108= |