Canonical Allele Identifier: CA2169201254
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1891645687
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789203dup , CM000677.2:g.34789203dup GRCh38
NC_000015.9:g.35081404dup , CM000677.1:g.35081404dup GRCh37
NC_000015.8:g.32868696dup NCBI36
NG_007553.1:g.11528dup , LRG_388:g.11528dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*1213dup (ACTC1) ENSP00000290378.4:n.*1213dup
NM_005159.4:c.*1213dup , LRG_388t1:c.*1213dup (ACTC1) NP_005150.1:n.*1213dup
NR_120329.1:n.299+11772dup (GJD2-DT)
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