Canonical Allele Identifier: CA1948239396

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570643_2570646delinsGTGT , CM000673.2:g.2570643_2570646delinsGTGT	GRCh38
NC_000011.9:g.2591873_2591876delinsGTGT , CM000673.1:g.2591873_2591876delinsGTGT	GRCh37
NC_000011.8:g.2548449_2548452delinsGTGT	NCBI36
NG_008935.1:g.130653_130656delinsGTGT , LRG_287:g.130653_130656delinsGTGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.232_235delinsGTGT	ENSP00000434560.2:p.Val78=
ENST00000646564.2:c.478-12792_478-12789delinsGTGT	ENSP00000495806.2:n.478-12792_478-12789de...
ENST00000155840.12:c.493_496delinsGTGT MANE Select	ENSP00000155840.2:p.Val165=
ENST00000335475.6:c.112_115delinsGTGT	ENSP00000334497.5:p.Val38=
ENST00000646564.1:c.124-12792_124-12789delinsGTGT	ENSP00000495806.1:n.124-12792_124-12789de...
ENST00000155840.9:c.493_496delinsGTGT	ENSP00000155840.2:p.Val165=
ENST00000335475.5:c.112_115delinsGTGT	ENSP00000334497.5:p.Val38=
ENST00000496887.6:c.232_235delinsGTGT	ENSP00000434560.1:p.Val78=
NM_000218.2:c.493_496delinsGTGT , LRG_287t1:c.493_496delinsGTGT	NP_000209.2:p.Val165=
NM_181798.1:c.112_115delinsGTGT , LRG_287t2:c.112_115delinsGTGT	NP_861463.1:p.Val38=
NM_000218.3:c.493_496delinsGTGT MANE Select	NP_000209.2:p.Val165=