Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34789773_34789777delinsCAACT , CM000677.2:g.34789773_34789777delinsCAACT | GRCh38 |
| NC_000015.9:g.35081974_35081978delinsCAACT , CM000677.1:g.35081974_35081978delinsCAACT | GRCh37 |
| NC_000015.8:g.32869266_32869270delinsCAACT | NCBI36 |
| NG_007553.1:g.10950_10954delinsAGTTG , LRG_388:g.10950_10954delinsAGTTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290378.4:c.*635_*639delinsAGTTG (ACTC1) | ENSP00000290378.4:n.*635_*639delinsAGTTG | |
| NM_005159.4:c.*635_*639delinsAGTTG , LRG_388t1:c.*635_*639delinsAGTTG (ACTC1) | NP_005150.1:n.*635_*639delinsAGTTG | |
| NR_120329.1:n.299+12342_299+12346delinsCAACT (GJD2-DT) |