Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34790394_34790406del , CM000677.2:g.34790394_34790406del | GRCh38 |
| NC_000015.9:g.35082595_35082607del , CM000677.1:g.35082595_35082607del | GRCh37 |
| NC_000015.8:g.32869887_32869899del | NCBI36 |
| NG_007553.1:g.10323_10335del , LRG_388:g.10323_10335del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.2042_2054del (ACTC1) | ||
| ENST00000290378.6:c.*8_*20del (ACTC1) MANE Select | ENSP00000290378.4:n.*8_*20del | |
| ENST00000647798.1:n.1236_1248del (ACTC1) | ||
| ENST00000650163.1:n.1222_1234del (ACTC1) | ||
| ENST00000290378.4:c.*8_*20del (ACTC1) | ENSP00000290378.4:n.*8_*20del | |
| NM_005159.4:c.*8_*20del , LRG_388t1:c.*8_*20del (ACTC1) | NP_005150.1:n.*8_*20del | |
| NR_120329.1:n.299+12963_299+12975del (GJD2-DT) | ||
| NM_005159.5:c.*8_*20del (ACTC1) MANE Select | NP_005150.1:n.*8_*20del |