Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34790334_34790335del , CM000677.2:g.34790334_34790335del | GRCh38 |
| NC_000015.9:g.35082535_35082536del , CM000677.1:g.35082535_35082536del | GRCh37 |
| NC_000015.8:g.32869827_32869828del | NCBI36 |
| NG_007553.1:g.10393_10394del , LRG_388:g.10393_10394del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.2112_2113del (ACTC1) | ||
| ENST00000290378.6:c.*78_*79del (ACTC1) MANE Select | ENSP00000290378.4:n.*78_*79del | |
| ENST00000647798.1:n.1306_1307del (ACTC1) | ||
| ENST00000650163.1:n.1292_1293del (ACTC1) | ||
| ENST00000290378.4:c.*78_*79del (ACTC1) | ENSP00000290378.4:n.*78_*79del | |
| NM_005159.4:c.*78_*79del , LRG_388t1:c.*78_*79del (ACTC1) | NP_005150.1:n.*78_*79del | |
| NR_120329.1:n.299+12903_299+12904del (GJD2-DT) | ||
| NM_005159.5:c.*78_*79del (ACTC1) MANE Select | NP_005150.1:n.*78_*79del |