Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34793258del , CM000677.2:g.34793258del | GRCh38 |
| NC_000015.9:g.35085459del , CM000677.1:g.35085459del | GRCh37 |
| NC_000015.8:g.32872751del | NCBI36 |
| NG_007553.1:g.7469del , LRG_388:g.7469del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.547del (ACTC1) | ||
| ENST00000290378.6:c.441del (ACTC1) MANE Select | ENSP00000290378.4:p.Gly148AlafsTer14 | |
| ENST00000647798.1:n.548+40del (ACTC1) | ||
| ENST00000648556.1:n.598del (ACTC1) | ||
| ENST00000650163.1:n.521del (ACTC1) | ||
| ENST00000290378.4:c.441del (ACTC1) | ENSP00000290378.4:p.Gly148AlafsTer14 | |
| NM_005159.4:c.441del , LRG_388t1:c.441del (ACTC1) | NP_005150.1:p.Gly148AlafsTer14 | |
| NR_120329.1:n.299+15827del (GJD2-DT) | ||
| NM_005159.5:c.441del (ACTC1) MANE Select | NP_005150.1:p.Gly148AlafsTer14 |