Canonical Allele Identifier: CA712314280
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1405525412
gnomAD v3: 15-34790130-G-GGATGAAC
gnomAD v4: 15-34790130-G-GGATGAAC
MyVariant Identifiers: chr15:g.35082331_35082332insGATGAAC (hg19) chr15:g.34790130_34790131insGATGAAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790131_34790137dup , CM000677.2:g.34790131_34790137dup GRCh38
NC_000015.9:g.35082332_35082338dup , CM000677.1:g.35082332_35082338dup GRCh37
NC_000015.8:g.32869624_32869630dup NCBI36
NG_007553.1:g.10590_10596dup , LRG_388:g.10590_10596dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.2309_2315dup (ACTC1)
ENST00000290378.4:c.*275_*281dup (ACTC1) ENSP00000290378.4:n.*275_*281dup
NM_005159.4:c.*275_*281dup , LRG_388t1:c.*275_*281dup (ACTC1) NP_005150.1:n.*275_*281dup
NR_120329.1:n.299+12700_299+12706dup (GJD2-DT)
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