Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34790361_34790363del , CM000677.2:g.34790361_34790363del | GRCh38 |
| NC_000015.9:g.35082562_35082564del , CM000677.1:g.35082562_35082564del | GRCh37 |
| NC_000015.8:g.32869854_32869856del | NCBI36 |
| NG_007553.1:g.10367_10369del , LRG_388:g.10367_10369del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.2086_2088del (ACTC1) | ||
| ENST00000290378.6:c.*52_*54del (ACTC1) MANE Select | ENSP00000290378.4:n.*52_*54del | |
| ENST00000647798.1:n.1280_1282del (ACTC1) | ||
| ENST00000650163.1:n.1266_1268del (ACTC1) | ||
| ENST00000290378.4:c.*52_*54del (ACTC1) | ENSP00000290378.4:n.*52_*54del | |
| NM_005159.4:c.*52_*54del , LRG_388t1:c.*52_*54del (ACTC1) | NP_005150.1:n.*52_*54del | |
| NR_120329.1:n.299+12930_299+12932del (GJD2-DT) | ||
| NM_005159.5:c.*52_*54del (ACTC1) MANE Select | NP_005150.1:n.*52_*54del |