Canonical Allele Identifier: CA968568309
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1891642238
gnomAD v3: 15-34789094-A-AACTG
gnomAD v4: 15-34789094-A-AACTG
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789094_34789095insACTG , CM000677.2:g.34789094_34789095insACTG GRCh38
NC_000015.9:g.35081295_35081296insACTG , CM000677.1:g.35081295_35081296insACTG GRCh37
NC_000015.8:g.32868587_32868588insACTG NCBI36
NG_007553.1:g.11632_11633insCAGT , LRG_388:g.11632_11633insCAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*1317_*1318insCAGT (ACTC1) ENSP00000290378.4:n.*1317_*1318insCAGT
NM_005159.4:c.*1317_*1318insCAGT , LRG_388t1:c.*1317_*1318insCAGT (ACTC1) NP_005150.1:n.*1317_*1318insCAGT
NR_120329.1:n.299+11663_299+11664insACTG (GJD2-DT)
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