Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34790338_34790339insG , CM000677.2:g.34790338_34790339insG | GRCh38 |
| NC_000015.9:g.35082539_35082540insG , CM000677.1:g.35082539_35082540insG | GRCh37 |
| NC_000015.8:g.32869831_32869832insG | NCBI36 |
| NG_007553.1:g.10388_10389insC , LRG_388:g.10388_10389insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.2107_2108insC (ACTC1) | ||
| ENST00000290378.6:c.*73_*74insC (ACTC1) MANE Select | ENSP00000290378.4:n.*73_*74insC | |
| ENST00000647798.1:n.1301_1302insC (ACTC1) | ||
| ENST00000650163.1:n.1287_1288insC (ACTC1) | ||
| ENST00000290378.4:c.*73_*74insC (ACTC1) | ENSP00000290378.4:n.*73_*74insC | |
| NM_005159.4:c.*73_*74insC , LRG_388t1:c.*73_*74insC (ACTC1) | NP_005150.1:n.*73_*74insC | |
| NR_120329.1:n.299+12907_299+12908insG (GJD2-DT) | ||
| NM_005159.5:c.*73_*74insC (ACTC1) MANE Select | NP_005150.1:n.*73_*74insC |