Canonical Allele Identifier: CA2169203182
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1891666605
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790086del , CM000677.2:g.34790086del GRCh38
NC_000015.9:g.35082287del , CM000677.1:g.35082287del GRCh37
NC_000015.8:g.32869579del NCBI36
NG_007553.1:g.10644del , LRG_388:g.10644del

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*329del (ACTC1) ENSP00000290378.4:n.*329del
NM_005159.4:c.*329del , LRG_388t1:c.*329del (ACTC1) NP_005150.1:n.*329del
NR_120329.1:n.299+12655del (GJD2-DT)
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