Canonical Allele Identifier: CA1948309679

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768686_2768687delinsCT , CM000673.2:g.2768686_2768687delinsCT	GRCh38
NC_000011.9:g.2789916_2789917delinsCT , CM000673.1:g.2789916_2789917delinsCT	GRCh37
NC_000011.8:g.2746492_2746493delinsCT	NCBI36
NG_008935.1:g.328696_328697delinsCT , LRG_287:g.328696_328697delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1158-158_1158-157delinsCT	ENSP00000434560.2:n.1158-158_1158-157delinsCT
ENST00000646564.2:c.975-158_975-157delinsCT	ENSP00000495806.2:n.975-158_975-157delinsCT
ENST00000155840.12:c.1515-158_1515-157delinsCT MANE Select	ENSP00000155840.2:n.1515-158_1515-157delinsCT
ENST00000335475.6:c.1134-158_1134-157delinsCT	ENSP00000334497.5:n.1134-158_1134-157delinsCT
ENST00000646564.1:c.621-158_621-157delinsCT	ENSP00000495806.1:n.621-158_621-157delinsCT
ENST00000155840.9:c.1515-158_1515-157delinsCT	ENSP00000155840.2:n.1515-158_1515-157delinsCT
ENST00000335475.5:c.1134-158_1134-157delinsCT	ENSP00000334497.5:n.1134-158_1134-157delinsCT
NM_000218.2:c.1515-158_1515-157delinsCT , LRG_287t1:c.1515-158_1515-157delinsCT	NP_000209.2:n.1515-158_1515-157delinsCT
NM_181798.1:c.1134-158_1134-157delinsCT , LRG_287t2:c.1134-158_1134-157delinsCT	NP_861463.1:n.1134-158_1134-157delinsCT
NM_000218.3:c.1515-158_1515-157delinsCT MANE Select	NP_000209.2:n.1515-158_1515-157delinsCT