Canonical Allele Identifier: CA617196577
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1440919122
gnomAD v2: 15-35080942-C-CT
gnomAD v3: 15-34788741-C-CT
gnomAD v4: 15-34788741-C-CT
MyVariant Identifiers: chr15:g.35080942_35080943insT (hg19) chr15:g.34788741_34788742insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34788746dup , CM000677.2:g.34788746dup GRCh38
NC_000015.9:g.35080947dup , CM000677.1:g.35080947dup GRCh37
NC_000015.8:g.32868239dup NCBI36
NG_007553.1:g.11985dup , LRG_388:g.11985dup

Transcript Alleles

HGVS Amino-acid change
ENST00000290378.4:c.*1670dup (ACTC1) ENSP00000290378.4:n.*1670dup
NM_005159.4:c.*1670dup , LRG_388t1:c.*1670dup (ACTC1) NP_005150.1:n.*1670dup
NR_120329.1:n.299+11315dup (GJD2-DT)
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