Linked Data
gnomAD v4:
15-34789774-A-ACCCCCCCCCCCCCCCCCCCCCCCCCCCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34789774_34789775insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC , CM000677.2:g.34789774_34789775insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | GRCh38 |
| NC_000015.9:g.35081975_35081976insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC , CM000677.1:g.35081975_35081976insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | GRCh37 |
| NC_000015.8:g.32869267_32869268insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | NCBI36 |
| NG_007553.1:g.10952_10953insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG , LRG_388:g.10952_10953insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290378.4:c.*637_*638insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (ACTC1) | ENSP00000290378.4:n.*637_*638insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG... | |
| NM_005159.4:c.*637_*638insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG , LRG_388t1:c.*637_*638insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (ACTC1) | NP_005150.1:n.*637_*638insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | |
| NR_120329.1:n.299+12343_299+12344insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (GJD2-DT) |