Linked Data
gnomAD v4:
15-34789776-CTGTCAGCTAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34789777_34789786del , CM000677.2:g.34789777_34789786del | GRCh38 |
| NC_000015.9:g.35081978_35081987del , CM000677.1:g.35081978_35081987del | GRCh37 |
| NC_000015.8:g.32869270_32869279del | NCBI36 |
| NG_007553.1:g.10941_10950del , LRG_388:g.10941_10950del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290378.4:c.*626_*635del (ACTC1) | ENSP00000290378.4:n.*626_*635del | |
| NM_005159.4:c.*626_*635del , LRG_388t1:c.*626_*635del (ACTC1) | NP_005150.1:n.*626_*635del | |
| NR_120329.1:n.299+12346_299+12355del (GJD2-DT) |