Linked Data
gnomAD v4:
15-34789770-G-GCCCCCCCCCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34789773_34789774insCCCCCCCCCCC , CM000677.2:g.34789773_34789774insCCCCCCCCCCC | GRCh38 |
| NC_000015.9:g.35081974_35081975insCCCCCCCCCCC , CM000677.1:g.35081974_35081975insCCCCCCCCCCC | GRCh37 |
| NC_000015.8:g.32869266_32869267insCCCCCCCCCCC | NCBI36 |
| NG_007553.1:g.10956_10957insGGGGGGGGGGG , LRG_388:g.10956_10957insGGGGGGGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290378.4:c.*641_*642insGGGGGGGGGGG (ACTC1) | ENSP00000290378.4:n.*641_*642insGGGGGGGGGGG | |
| NM_005159.4:c.*641_*642insGGGGGGGGGGG , LRG_388t1:c.*641_*642insGGGGGGGGGGG (ACTC1) | NP_005150.1:n.*641_*642insGGGGGGGGGGG | |
| NR_120329.1:n.299+12342_299+12343insCCCCCCCCCCC (GJD2-DT) |