Canonical Allele Identifier: CA2612003996

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2572246-C-CAGGGCGCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572246_2572247insAGGGCGCAG , CM000673.2:g.2572246_2572247insAGGGCGCAG	GRCh38
NC_000011.9:g.2593476_2593477insAGGGCGCAG , CM000673.1:g.2593476_2593477insAGGGCGCAG	GRCh37
NC_000011.8:g.2550052_2550053insAGGGCGCAG	NCBI36
NG_008935.1:g.132256_132257insAGGGCGCAG , LRG_287:g.132256_132257insAGGGCGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.519+137_519+138insAGGGCGCAG	ENSP00000434560.2:n.519+137_519+138insAGGGCGCAG
ENST00000646564.2:c.478-11189_478-11188insAGGGCGCAG	ENSP00000495806.2:n.478-11189_478-11188insAGGGCGCAG
ENST00000155840.12:c.780+137_780+138insAGGGCGCAG MANE Select	ENSP00000155840.2:n.780+137_780+138insAGGGCGCAG
ENST00000335475.6:c.399+137_399+138insAGGGCGCAG	ENSP00000334497.5:n.399+137_399+138insAGGGCGCAG
ENST00000646564.1:c.124-11189_124-11188insAGGGCGCAG	ENSP00000495806.1:n.124-11189_124-11188insAGGGCGCAG
ENST00000155840.9:c.780+137_780+138insAGGGCGCAG	ENSP00000155840.2:n.780+137_780+138insAGGGCGCAG
ENST00000335475.5:c.399+137_399+138insAGGGCGCAG	ENSP00000334497.5:n.399+137_399+138insAGGGCGCAG
ENST00000496887.6:c.519+137_519+138insAGGGCGCAG	ENSP00000434560.1:n.519+137_519+138insAGGGCGCAG
NM_000218.2:c.780+137_780+138insAGGGCGCAG , LRG_287t1:c.780+137_780+138insAGGGCGCAG	NP_000209.2:n.780+137_780+138insAGGGCGCAG
NM_181798.1:c.399+137_399+138insAGGGCGCAG , LRG_287t2:c.399+137_399+138insAGGGCGCAG	NP_861463.1:n.399+137_399+138insAGGGCGCAG
NM_000218.3:c.780+137_780+138insAGGGCGCAG MANE Select	NP_000209.2:n.780+137_780+138insAGGGCGCAG