Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34790342_34790347del , CM000677.2:g.34790342_34790347del | GRCh38 |
| NC_000015.9:g.35082543_35082548del , CM000677.1:g.35082543_35082548del | GRCh37 |
| NC_000015.8:g.32869835_32869840del | NCBI36 |
| NG_007553.1:g.10380_10385del , LRG_388:g.10380_10385del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.2099_2104del (ACTC1) | ||
| ENST00000290378.6:c.*65_*70del (ACTC1) MANE Select | ENSP00000290378.4:n.*65_*70del | |
| ENST00000647798.1:n.1293_1298del (ACTC1) | ||
| ENST00000650163.1:n.1279_1284del (ACTC1) | ||
| ENST00000290378.4:c.*65_*70del (ACTC1) | ENSP00000290378.4:n.*65_*70del | |
| NM_005159.4:c.*65_*70del , LRG_388t1:c.*65_*70del (ACTC1) | NP_005150.1:n.*65_*70del | |
| NR_120329.1:n.299+12911_299+12916del (GJD2-DT) | ||
| NM_005159.5:c.*65_*70del (ACTC1) MANE Select | NP_005150.1:n.*65_*70del |