Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34790082_34790083delinsCA , CM000677.2:g.34790082_34790083delinsCA | GRCh38 |
| NC_000015.9:g.35082283_35082284delinsCA , CM000677.1:g.35082283_35082284delinsCA | GRCh37 |
| NC_000015.8:g.32869575_32869576delinsCA | NCBI36 |
| NG_007553.1:g.10644_10645delinsTG , LRG_388:g.10644_10645delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290378.4:c.*329_*330delinsTG (ACTC1) | ENSP00000290378.4:n.*329_*330delinsTG | |
| NM_005159.4:c.*329_*330delinsTG , LRG_388t1:c.*329_*330delinsTG (ACTC1) | NP_005150.1:n.*329_*330delinsTG | |
| NR_120329.1:n.299+12651_299+12652delinsCA (GJD2-DT) |