Canonical Allele Identifier: CA260115
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 35646
ClinVar RCV Id: RCV001529870
dbSNP Id: rs148433308
ExAC: 15:35086857 C / CG
gnomAD v2: 15-35086857-C-CG
gnomAD v3: 15-34794656-C-CG
gnomAD v4: 15-34794656-C-CG
MyVariant Identifiers: chr15:g.35086858dupG (hg19) chr15:g.35086858_35086859insG (hg19) chr15:g.35086857_35086858insG (hg19) chr15:g.34794657dupG (hg38) chr15:g.34794656_34794657insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34794662dup , CM000677.2:g.34794662dup GRCh38
NC_000015.9:g.35086863dup , CM000677.1:g.35086863dup GRCh37
NC_000015.8:g.32874155dup NCBI36
NG_007553.1:g.6070dup , LRG_388:g.6070dup

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.235+23dup (ACTC1)
ENST00000290378.6:c.129+23dup (ACTC1) MANE Select ENSP00000290378.4:n.129+23dup
ENST00000290378.4:c.129+23dup (ACTC1) ENSP00000290378.4:n.129+23dup
NM_005159.4:c.129+23dup , LRG_388t1:c.129+23dup (ACTC1) NP_005150.1:n.129+23dup
NR_120329.1:n.300-15834dup (GJD2-DT)
NM_005159.5:c.129+23dup (ACTC1) MANE Select NP_005150.1:n.129+23dup
Search 100 bp 5'
Search 100 bp 3'