Canonical Allele Identifier: CA597098435
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1436088509
gnomAD v2: 11-2465946-C-CGGGCGG
gnomAD v3: 11-2444716-C-CGGGCGG
gnomAD v4: 11-2444716-C-CGGGCGG
MyVariant Identifiers: chr11:g.2465956_2465964delinsCGGGGGTGGGGGTGG (hg19) chr11:g.2465946_2465947insGGGCGG (hg19) chr11:g.2444726_2444734delinsCGGGGGTGGGGGTGG (hg38) chr11:g.2444716_2444717insGGGCGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444720_2444725dup , CM000673.2:g.2444720_2444725dup GRCh38
NC_000011.9:g.2465950_2465955dup , CM000673.1:g.2465950_2465955dup GRCh37
NC_000011.8:g.2422526_2422531dup NCBI36
NG_008935.1:g.4730_4735dup , LRG_287:g.4730_4735dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+12_23+17dup ENSP00000434560.2:n.23+12_23+17dup
ENST00000496887.6:c.23+12_23+17dup ENSP00000434560.1:n.23+12_23+17dup
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