Canonical Allele Identifier: CA712314105
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1170023021
gnomAD v3: 15-34789914-T-TTC
gnomAD v4: 15-34789914-T-TTC
MyVariant Identifiers: chr15:g.35082115_35082116insTC (hg19) chr15:g.34789914_34789915insTC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789915_34789916insCT , CM000677.2:g.34789915_34789916insCT GRCh38
NC_000015.9:g.35082116_35082117insCT , CM000677.1:g.35082116_35082117insCT GRCh37
NC_000015.8:g.32869408_32869409insCT NCBI36
NG_007553.1:g.10812_10813insGA , LRG_388:g.10812_10813insGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*497_*498insGA (ACTC1) ENSP00000290378.4:n.*497_*498insGA
NM_005159.4:c.*497_*498insGA , LRG_388t1:c.*497_*498insGA (ACTC1) NP_005150.1:n.*497_*498insGA
NR_120329.1:n.299+12484_299+12485insCT (GJD2-DT)
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