Canonical Allele Identifier: CA2169201241
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1891645156
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789185dup , CM000677.2:g.34789185dup GRCh38
NC_000015.9:g.35081386dup , CM000677.1:g.35081386dup GRCh37
NC_000015.8:g.32868678dup NCBI36
NG_007553.1:g.11543dup , LRG_388:g.11543dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*1228dup (ACTC1) ENSP00000290378.4:n.*1228dup
NM_005159.4:c.*1228dup , LRG_388t1:c.*1228dup (ACTC1) NP_005150.1:n.*1228dup
NR_120329.1:n.299+11754dup (GJD2-DT)
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