Canonical Allele Identifier: CA1948242115

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571678_2571679delinsTG , CM000673.2:g.2571678_2571679delinsTG	GRCh38
NC_000011.9:g.2592908_2592909delinsTG , CM000673.1:g.2592908_2592909delinsTG	GRCh37
NC_000011.8:g.2549484_2549485delinsTG	NCBI36
NG_008935.1:g.131688_131689delinsTG , LRG_287:g.131688_131689delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.422+275_422+276delinsTG	ENSP00000434560.2:n.422+275_422+276delinsTG
ENST00000646564.2:c.478-11757_478-11756delinsTG	ENSP00000495806.2:n.478-11757_478-11756delinsTG
ENST00000155840.12:c.683+275_683+276delinsTG MANE Select	ENSP00000155840.2:n.683+275_683+276delinsTG
ENST00000335475.6:c.302+275_302+276delinsTG	ENSP00000334497.5:n.302+275_302+276delinsTG
ENST00000646564.1:c.124-11757_124-11756delinsTG	ENSP00000495806.1:n.124-11757_124-11756delinsTG
ENST00000155840.9:c.683+275_683+276delinsTG	ENSP00000155840.2:n.683+275_683+276delinsTG
ENST00000335475.5:c.302+275_302+276delinsTG	ENSP00000334497.5:n.302+275_302+276delinsTG
ENST00000496887.6:c.422+275_422+276delinsTG	ENSP00000434560.1:n.422+275_422+276delinsTG
NM_000218.2:c.683+275_683+276delinsTG , LRG_287t1:c.683+275_683+276delinsTG	NP_000209.2:n.683+275_683+276delinsTG
NM_181798.1:c.302+275_302+276delinsTG , LRG_287t2:c.302+275_302+276delinsTG	NP_861463.1:n.302+275_302+276delinsTG
NM_000218.3:c.683+275_683+276delinsTG MANE Select	NP_000209.2:n.683+275_683+276delinsTG