Linked Data
dbSNP Id:
rs1194538397
gnomAD v2:
15-35083515-C-CACAG
gnomAD v4:
15-34791314-C-CACAG
MyVariant Identifiers:
chr15:g.35083515_35083516insACAG (hg19)
chr15:g.34791314_34791315insACAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34791317_34791318insGACA , CM000677.2:g.34791317_34791318insGACA | GRCh38 |
| NC_000015.9:g.35083518_35083519insGACA , CM000677.1:g.35083518_35083519insGACA | GRCh37 |
| NC_000015.8:g.32870810_32870811insGACA | NCBI36 |
| NG_007553.1:g.9412_9413insCTGT , LRG_388:g.9412_9413insCTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.1689_1690insCTGT (ACTC1) | ||
| ENST00000290378.6:c.809-20_809-19insCTGT (ACTC1) MANE Select | ENSP00000290378.4:n.809-20_809-19insCTGT | |
| ENST00000647798.1:n.903-20_903-19insCTGT (ACTC1) | ||
| ENST00000650163.1:n.889-20_889-19insCTGT (ACTC1) | ||
| ENST00000290378.4:c.809-20_809-19insCTGT (ACTC1) | ENSP00000290378.4:n.809-20_809-19insCTGT | |
| ENST00000557860.1:n.499-20_499-19insCTGT (ACTC1) | ||
| NM_005159.4:c.809-20_809-19insCTGT , LRG_388t1:c.809-20_809-19insCTGT (ACTC1) | NP_005150.1:n.809-20_809-19insCTGT | |
| NR_120329.1:n.299+13886_299+13887insGACA (GJD2-DT) | ||
| NM_005159.5:c.809-20_809-19insCTGT (ACTC1) MANE Select | NP_005150.1:n.809-20_809-19insCTGT |