Canonical Allele Identifier: CA1948196634

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527825_2527826delinsCT , CM000673.2:g.2527825_2527826delinsCT	GRCh38
NC_000011.9:g.2549055_2549056delinsCT , CM000673.1:g.2549055_2549056delinsCT	GRCh37
NC_000011.8:g.2505631_2505632delinsCT	NCBI36
NG_008935.1:g.87835_87836delinsCT , LRG_287:g.87835_87836delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380776.5:n.184-103_184-102delinsCT
ENST00000496887.7:c.126-103_126-102delinsCT	ENSP00000434560.2:n.126-103_126-102delinsCT
ENST00000646564.2:c.387-103_387-102delinsCT	ENSP00000495806.2:n.387-103_387-102delinsCT
ENST00000155840.12:c.387-103_387-102delinsCT MANE Select	ENSP00000155840.2:n.387-103_387-102delinsCT
ENST00000335475.6:c.6-103_6-102delinsCT	ENSP00000334497.5:n.6-103_6-102delinsCT
ENST00000646564.1:c.33-103_33-102delinsCT	ENSP00000495806.1:n.33-103_33-102delinsCT
ENST00000155840.9:c.387-103_387-102delinsCT	ENSP00000155840.2:n.387-103_387-102delinsCT
ENST00000335475.5:c.6-103_6-102delinsCT	ENSP00000334497.5:n.6-103_6-102delinsCT
ENST00000345015.4:n.256-103_256-102delinsCT
ENST00000380776.4:c.177-103_177-102delinsCT	ENSP00000370153.4:n.177-103_177-102delinsCT
ENST00000496887.6:c.126-103_126-102delinsCT	ENSP00000434560.1:n.126-103_126-102delinsCT
NM_000218.2:c.387-103_387-102delinsCT , LRG_287t1:c.387-103_387-102delinsCT	NP_000209.2:n.387-103_387-102delinsCT
NM_181798.1:c.6-103_6-102delinsCT , LRG_287t2:c.6-103_6-102delinsCT	NP_861463.1:n.6-103_6-102delinsCT
NM_000218.3:c.387-103_387-102delinsCT MANE Select	NP_000209.2:n.387-103_387-102delinsCT