Linked Data
gnomAD v4:
15-34790069-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34790073dup , CM000677.2:g.34790073dup | GRCh38 |
| NC_000015.9:g.35082274dup , CM000677.1:g.35082274dup | GRCh37 |
| NC_000015.8:g.32869566dup | NCBI36 |
| NG_007553.1:g.10657dup , LRG_388:g.10657dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290378.4:c.*342dup (ACTC1) | ENSP00000290378.4:n.*342dup | |
| NM_005159.4:c.*342dup , LRG_388t1:c.*342dup (ACTC1) | NP_005150.1:n.*342dup | |
| NR_120329.1:n.299+12642dup (GJD2-DT) |