Canonical Allele Identifier: CA006733
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53030
ClinVar RCV Id: RCV002483051 RCV003362680
dbSNP Id: rs397508107
gnomAD v2: 11-2466529-G-GGCCGCGCCC
gnomAD v3: 11-2445299-G-GGCCGCGCCC
gnomAD v4: 11-2445299-G-GGCCGCGCCC
MyVariant Identifiers: chr11:g.2466539_2466547dupGCCGCGCCC (hg19) chr11:g.2466529_2466530insGCCGCGCCC (hg19) chr11:g.2445309_2445317dupGCCGCGCCC (hg38) chr11:g.2445299_2445300insGCCGCGCCC (hg38)
PubMed: PMID:19841300
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445309_2445317dup , CM000673.2:g.2445309_2445317dup GRCh38
NC_000011.9:g.2466539_2466547dup , CM000673.1:g.2466539_2466547dup GRCh37
NC_000011.8:g.2423115_2423123dup NCBI36
NG_008935.1:g.5319_5327dup , LRG_287:g.5319_5327dup

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-74_24-66dup ENSP00000434560.2:n.24-74_24-66dup
ENST00000646564.2:c.211_219dup ENSP00000495806.2:p.Pro73_Pro74insAlaAlaP...
ENST00000155840.12:c.211_219dup MANE Select ENSP00000155840.2:p.Pro73_Pro74insAlaAlaP...
ENST00000155840.9:c.211_219dup ENSP00000155840.2:p.Pro73_Pro74insAlaAlaP...
ENST00000496887.6:c.24-74_24-66dup ENSP00000434560.1:n.24-74_24-66dup
NM_000218.2:c.211_219dup , LRG_287t1:c.211_219dup NP_000209.2:p.Pro73_Pro74insAlaAlaPro
NM_000218.3:c.211_219dup MANE Select NP_000209.2:p.Pro73_Pro74insAlaAlaPro
Search 100 bp 5'
Search 100 bp 3'