Canonical Allele Identifier: CA1948224610

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583442_2583445delinsTCAC , CM000673.2:g.2583442_2583445delinsTCAC	GRCh38
NC_000011.9:g.2604672_2604675delinsTCAC , CM000673.1:g.2604672_2604675delinsTCAC	GRCh37
NC_000011.8:g.2561248_2561251delinsTCAC	NCBI36
NG_008935.1:g.143452_143455delinsTCAC , LRG_287:g.143452_143455delinsTCAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.668_671delinsTCAC	ENSP00000434560.2:p.Val223=
ENST00000646564.2:c.485_488delinsTCAC	ENSP00000495806.2:p.Val162=
ENST00000155840.12:c.929_932delinsTCAC MANE Select	ENSP00000155840.2:p.Val310=
ENST00000335475.6:c.548_551delinsTCAC	ENSP00000334497.5:p.Val183=
ENST00000646564.1:c.131_134delinsTCAC	ENSP00000495806.1:p.Val44=
ENST00000155840.9:c.929_932delinsTCAC	ENSP00000155840.2:p.Val310=
ENST00000335475.5:c.548_551delinsTCAC	ENSP00000334497.5:p.Val183=
NM_000218.2:c.929_932delinsTCAC , LRG_287t1:c.929_932delinsTCAC	NP_000209.2:p.Val310=
NM_181798.1:c.548_551delinsTCAC , LRG_287t2:c.548_551delinsTCAC	NP_861463.1:p.Val183=
NM_000218.3:c.929_932delinsTCAC MANE Select	NP_000209.2:p.Val310=