Canonical Allele Identifier: CA2695213153

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572846_2572847delinsTC , CM000673.2:g.2572846_2572847delinsTC	GRCh38
NC_000011.9:g.2594076_2594077delinsTC , CM000673.1:g.2594076_2594077delinsTC	GRCh37
NC_000011.8:g.2550652_2550653delinsTC	NCBI36
NG_008935.1:g.132856_132857delinsTC , LRG_287:g.132856_132857delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.520_521delinsTC	ENSP00000434560.2:p.Glu174Ser
ENST00000646564.2:c.478-10589_478-10588delinsTC	ENSP00000495806.2:n.478-10589_478-10588de...
ENST00000155840.12:c.781_782delinsTC MANE Select	ENSP00000155840.2:p.Glu261Ser
ENST00000335475.6:c.400_401delinsTC	ENSP00000334497.5:p.Glu134Ser
ENST00000646564.1:c.124-10589_124-10588delinsTC	ENSP00000495806.1:n.124-10589_124-10588de...
ENST00000155840.9:c.781_782delinsTC	ENSP00000155840.2:p.Glu261Ser
ENST00000335475.5:c.400_401delinsTC	ENSP00000334497.5:p.Glu134Ser
ENST00000496887.6:c.520_521delinsTC	ENSP00000434560.1:p.Glu174Ser
NM_000218.2:c.781_782delinsTC , LRG_287t1:c.781_782delinsTC	NP_000209.2:p.Glu261Ser
NM_181798.1:c.400_401delinsTC , LRG_287t2:c.400_401delinsTC	NP_861463.1:p.Glu134Ser
NM_000218.3:c.781_782delinsTC MANE Select	NP_000209.2:p.Glu261Ser