Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34790201_34790202del , CM000677.2:g.34790201_34790202del | GRCh38 |
| NC_000015.9:g.35082402_35082403del , CM000677.1:g.35082402_35082403del | GRCh37 |
| NC_000015.8:g.32869694_32869695del | NCBI36 |
| NG_007553.1:g.10525_10526del , LRG_388:g.10525_10526del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.2244_2245del (ACTC1) | ||
| ENST00000290378.4:c.*210_*211del (ACTC1) | ENSP00000290378.4:n.*210_*211del | |
| NM_005159.4:c.*210_*211del , LRG_388t1:c.*210_*211del (ACTC1) | NP_005150.1:n.*210_*211del | |
| NR_120329.1:n.299+12770_299+12771del (GJD2-DT) |