Canonical Allele Identifier: CA2803722625
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790212dup , CM000677.2:g.34790212dup GRCh38
NC_000015.9:g.35082413dup , CM000677.1:g.35082413dup GRCh37
NC_000015.8:g.32869705dup NCBI36
NG_007553.1:g.10519dup , LRG_388:g.10519dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.2238dup (ACTC1)
ENST00000290378.4:c.*204dup (ACTC1) ENSP00000290378.4:n.*204dup
NM_005159.4:c.*204dup , LRG_388t1:c.*204dup (ACTC1) NP_005150.1:n.*204dup
NR_120329.1:n.299+12781dup (GJD2-DT)
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