Canonical Allele Identifier: CA1948212559

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2573015_2573017delinsCAG , CM000673.2:g.2573015_2573017delinsCAG	GRCh38
NC_000011.9:g.2594245_2594247delinsCAG , CM000673.1:g.2594245_2594247delinsCAG	GRCh37
NC_000011.8:g.2550821_2550823delinsCAG	NCBI36
NG_008935.1:g.133025_133027delinsCAG , LRG_287:g.133025_133027delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.660+29_660+31delinsCAG	ENSP00000434560.2:n.660+29_660+31delinsCAG
ENST00000646564.2:c.478-10420_478-10418delinsCAG	ENSP00000495806.2:n.478-10420_478-10418delinsCAG
ENST00000155840.12:c.921+29_921+31delinsCAG MANE Select	ENSP00000155840.2:n.921+29_921+31delinsCAG
ENST00000335475.6:c.540+29_540+31delinsCAG	ENSP00000334497.5:n.540+29_540+31delinsCAG
ENST00000646564.1:c.124-10420_124-10418delinsCAG	ENSP00000495806.1:n.124-10420_124-10418delinsCAG
ENST00000155840.9:c.921+29_921+31delinsCAG	ENSP00000155840.2:n.921+29_921+31delinsCAG
ENST00000335475.5:c.540+29_540+31delinsCAG	ENSP00000334497.5:n.540+29_540+31delinsCAG
NM_000218.2:c.921+29_921+31delinsCAG , LRG_287t1:c.921+29_921+31delinsCAG	NP_000209.2:n.921+29_921+31delinsCAG
NM_181798.1:c.540+29_540+31delinsCAG , LRG_287t2:c.540+29_540+31delinsCAG	NP_861463.1:n.540+29_540+31delinsCAG
NM_000218.3:c.921+29_921+31delinsCAG MANE Select	NP_000209.2:n.921+29_921+31delinsCAG