Canonical Allele Identifier: CA252606

Gene: KCNQ1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570683delinsGG , CM000673.2:g.2570683delinsGG	GRCh38
NC_000011.9:g.2591913delinsGG , CM000673.1:g.2591913delinsGG	GRCh37
NC_000011.8:g.2548489delinsGG	NCBI36
NG_008935.1:g.130693delinsGG , LRG_287:g.130693delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.272delinsGG	ENSP00000434560.2:p.Ala91GlyfsTer?
ENST00000646564.2:c.478-12752delinsGG	ENSP00000495806.2:n.478-12752delinsGG
ENST00000155840.12:c.533delinsGG MANE Select	ENSP00000155840.2:p.Ala178GlyfsTer?
ENST00000335475.6:c.152delinsGG	ENSP00000334497.5:p.Ala51GlyfsTer?
ENST00000646564.1:c.124-12752delinsGG	ENSP00000495806.1:n.124-12752delinsGG
ENST00000155840.9:c.533delinsGG	ENSP00000155840.2:p.Ala178GlyfsTer?
ENST00000335475.5:c.152delinsGG	ENSP00000334497.5:p.Ala51GlyfsTer?
ENST00000496887.6:c.272delinsGG	ENSP00000434560.1:p.Ala91GlyfsTer?
NM_000218.2:c.533delinsGG , LRG_287t1:c.533delinsGG	NP_000209.2:p.Ala178GlyfsTer?
NM_181798.1:c.152delinsGG , LRG_287t2:c.152delinsGG	NP_861463.1:p.Ala51GlyfsTer?
NM_000218.3:c.533delinsGG MANE Select	NP_000209.2:p.Ala178GlyfsTer?