Canonical Allele Identifier: CA019832
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 180752
ClinVar RCV Id: RCV000460199 RCV000678694 RCV002223797 RCV002345531 RCV003531992
dbSNP Id: rs730880387
ExAC: 15:35086953 C / CTG
gnomAD v2: 15-35086953-C-CTG
gnomAD v3: 15-34794752-C-CTG
gnomAD v4: 15-34794752-C-CTG
MyVariant Identifiers: chr15:g.35086953_35086954insTG (hg19) chr15:g.34794752_34794753insTG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34794752_34794753insTG , CM000677.2:g.34794752_34794753insTG GRCh38
NC_000015.9:g.35086953_35086954insTG , CM000677.1:g.35086953_35086954insTG GRCh37
NC_000015.8:g.32874245_32874246insTG NCBI36
NG_007553.1:g.5974_5975insCA , LRG_388:g.5974_5975insCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.162_163insCA (ACTC1)
ENST00000290378.6:c.56_57insCA (ACTC1) MANE Select ENSP00000290378.4:p.Lys20ArgfsTer?
ENST00000290378.4:c.56_57insCA (ACTC1) ENSP00000290378.4:p.Lys20ArgfsTer?
NM_005159.4:c.56_57insCA , LRG_388t1:c.56_57insCA (ACTC1) NP_005150.1:p.Lys20ArgfsTer?
NR_120329.1:n.300-15744_300-15743insTG (GJD2-DT)
NM_005159.5:c.56_57insCA (ACTC1) MANE Select NP_005150.1:p.Lys20ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'