Canonical Allele Identifier: CA2169202375
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1891657037
gnomAD v4: 15-34789714-G-GCA
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789723_34789724dup , CM000677.2:g.34789723_34789724dup GRCh38
NC_000015.9:g.35081924_35081925dup , CM000677.1:g.35081924_35081925dup GRCh37
NC_000015.8:g.32869216_32869217dup NCBI36
NG_007553.1:g.11011_11012dup , LRG_388:g.11011_11012dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*696_*697dup (ACTC1) ENSP00000290378.4:n.*696_*697dup
NM_005159.4:c.*696_*697dup , LRG_388t1:c.*696_*697dup (ACTC1) NP_005150.1:n.*696_*697dup
NR_120329.1:n.299+12292_299+12293dup (GJD2-DT)
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