Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34793232del , CM000677.2:g.34793232del | GRCh38 |
| NC_000015.9:g.35085433del , CM000677.1:g.35085433del | GRCh37 |
| NC_000015.8:g.32872725del | NCBI36 |
| NG_007553.1:g.7495del , LRG_388:g.7495del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560563.2:n.560+13del (ACTC1) | ||
| ENST00000290378.6:c.454+13del (ACTC1) MANE Select | ENSP00000290378.4:n.454+13del | |
| ENST00000647798.1:n.548+66del (ACTC1) | ||
| ENST00000648556.1:n.611+13del (ACTC1) | ||
| ENST00000650163.1:n.534+13del (ACTC1) | ||
| ENST00000290378.4:c.454+13del (ACTC1) | ENSP00000290378.4:n.454+13del | |
| NM_005159.4:c.454+13del , LRG_388t1:c.454+13del (ACTC1) | NP_005150.1:n.454+13del | |
| NR_120329.1:n.299+15801del (GJD2-DT) | ||
| NM_005159.5:c.454+13del (ACTC1) MANE Select | NP_005150.1:n.454+13del |