Canonical Allele Identifier: CA2499220866
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1216469
ClinVar RCV Id: RCV001586850
dbSNP Id: rs2133559718
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445267_2445268insATCGCGCCC , CM000673.2:g.2445267_2445268insATCGCGCCC GRCh38
NC_000011.9:g.2466497_2466498insATCGCGCCC , CM000673.1:g.2466497_2466498insATCGCGCCC GRCh37
NC_000011.8:g.2423073_2423074insATCGCGCCC NCBI36
NG_008935.1:g.5277_5278insATCGCGCCC , LRG_287:g.5277_5278insATCGCGCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.24-116_24-115insATCGCGCCC ENSP00000434560.2:n.24-116_24-115insATCGCGCCC
ENST00000646564.2:c.169_170insATCGCGCCC ENSP00000495806.2:p.Gly57delinsAspArgAlaArg
ENST00000155840.12:c.169_170insATCGCGCCC MANE Select ENSP00000155840.2:p.Gly57delinsAspArgAlaArg
ENST00000155840.9:c.169_170insATCGCGCCC ENSP00000155840.2:p.Gly57delinsAspArgAlaArg
ENST00000496887.6:c.24-116_24-115insATCGCGCCC ENSP00000434560.1:n.24-116_24-115insATCGCGCCC
NM_000218.2:c.169_170insATCGCGCCC , LRG_287t1:c.169_170insATCGCGCCC NP_000209.2:p.Gly57delinsAspArgAlaArg
NM_000218.3:c.169_170insATCGCGCCC MANE Select NP_000209.2:p.Gly57delinsAspArgAlaArg
Search 100 bp 5'
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