Canonical Allele Identifier: CA1948292226

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2731376_2731379delinsTTGG , CM000673.2:g.2731376_2731379delinsTTGG	GRCh38
NC_000011.9:g.2752606_2752609delinsTTGG , CM000673.1:g.2752606_2752609delinsTTGG	GRCh37
NC_000011.8:g.2709182_2709185delinsTTGG	NCBI36
NG_008935.1:g.291386_291389delinsTTGG , LRG_287:g.291386_291389delinsTTGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1158-37468_1158-37465delinsTTGG	ENSP00000434560.2:n.1158-37468_1158-37465delinsTTGG
ENST00000646564.2:c.975-37468_975-37465delinsTTGG	ENSP00000495806.2:n.975-37468_975-37465delinsTTGG
ENST00000155840.12:c.1515-37468_1515-37465delinsTTGG MANE Select	ENSP00000155840.2:n.1515-37468_1515-37465delinsTTGG
ENST00000335475.6:c.1134-37468_1134-37465delinsTTGG	ENSP00000334497.5:n.1134-37468_1134-37465delinsTTGG
ENST00000646564.1:c.621-37468_621-37465delinsTTGG	ENSP00000495806.1:n.621-37468_621-37465delinsTTGG
ENST00000155840.9:c.1515-37468_1515-37465delinsTTGG	ENSP00000155840.2:n.1515-37468_1515-37465delinsTTGG
ENST00000335475.5:c.1134-37468_1134-37465delinsTTGG	ENSP00000334497.5:n.1134-37468_1134-37465delinsTTGG
NM_000218.2:c.1515-37468_1515-37465delinsTTGG , LRG_287t1:c.1515-37468_1515-37465delinsTTGG	NP_000209.2:n.1515-37468_1515-37465delinsTTGG
NM_181798.1:c.1134-37468_1134-37465delinsTTGG , LRG_287t2:c.1134-37468_1134-37465delinsTTGG	NP_861463.1:n.1134-37468_1134-37465delinsTTGG
NM_000218.3:c.1515-37468_1515-37465delinsTTGG MANE Select	NP_000209.2:n.1515-37468_1515-37465delinsTTGG