Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34793513del , CM000677.2:g.34793513del | GRCh38 |
| NC_000015.9:g.35085714del , CM000677.1:g.35085714del | GRCh37 |
| NC_000015.8:g.32873006del | NCBI36 |
| NG_007553.1:g.7214del , LRG_388:g.7214del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.292del (ACTC1) | ||
| ENST00000290378.6:c.186del (ACTC1) MANE Select | ENSP00000290378.4:p.Ser62ArgfsTer6 | |
| ENST00000647798.1:n.333del (ACTC1) | ||
| ENST00000648556.1:n.343del (ACTC1) | ||
| ENST00000650163.1:n.266del (ACTC1) | ||
| ENST00000290378.4:c.186del (ACTC1) | ENSP00000290378.4:p.Ser62ArgfsTer6 | |
| NM_005159.4:c.186del , LRG_388t1:c.186del (ACTC1) | NP_005150.1:p.Ser62ArgfsTer6 | |
| NR_120329.1:n.299+16082del (GJD2-DT) | ||
| NM_005159.5:c.186del (ACTC1) MANE Select | NP_005150.1:p.Ser62ArgfsTer6 |