Canonical Allele Identifier: CA1948242087

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571650_2571652delinsCTG , CM000673.2:g.2571650_2571652delinsCTG	GRCh38
NC_000011.9:g.2592880_2592882delinsCTG , CM000673.1:g.2592880_2592882delinsCTG	GRCh37
NC_000011.8:g.2549456_2549458delinsCTG	NCBI36
NG_008935.1:g.131660_131662delinsCTG , LRG_287:g.131660_131662delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.422+247_422+249delinsCTG	ENSP00000434560.2:n.422+247_422+249delinsCTG
ENST00000646564.2:c.478-11785_478-11783delinsCTG	ENSP00000495806.2:n.478-11785_478-11783delinsCTG
ENST00000155840.12:c.683+247_683+249delinsCTG MANE Select	ENSP00000155840.2:n.683+247_683+249delinsCTG
ENST00000335475.6:c.302+247_302+249delinsCTG	ENSP00000334497.5:n.302+247_302+249delinsCTG
ENST00000646564.1:c.124-11785_124-11783delinsCTG	ENSP00000495806.1:n.124-11785_124-11783delinsCTG
ENST00000155840.9:c.683+247_683+249delinsCTG	ENSP00000155840.2:n.683+247_683+249delinsCTG
ENST00000335475.5:c.302+247_302+249delinsCTG	ENSP00000334497.5:n.302+247_302+249delinsCTG
ENST00000496887.6:c.422+247_422+249delinsCTG	ENSP00000434560.1:n.422+247_422+249delinsCTG
NM_000218.2:c.683+247_683+249delinsCTG , LRG_287t1:c.683+247_683+249delinsCTG	NP_000209.2:n.683+247_683+249delinsCTG
NM_181798.1:c.302+247_302+249delinsCTG , LRG_287t2:c.302+247_302+249delinsCTG	NP_861463.1:n.302+247_302+249delinsCTG
NM_000218.3:c.683+247_683+249delinsCTG MANE Select	NP_000209.2:n.683+247_683+249delinsCTG