Canonical Allele Identifier: CA1948242066

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571637_2571638delinsAG , CM000673.2:g.2571637_2571638delinsAG	GRCh38
NC_000011.9:g.2592867_2592868delinsAG , CM000673.1:g.2592867_2592868delinsAG	GRCh37
NC_000011.8:g.2549443_2549444delinsAG	NCBI36
NG_008935.1:g.131647_131648delinsAG , LRG_287:g.131647_131648delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.422+234_422+235delinsAG	ENSP00000434560.2:n.422+234_422+235delinsAG
ENST00000646564.2:c.478-11798_478-11797delinsAG	ENSP00000495806.2:n.478-11798_478-11797delinsAG
ENST00000155840.12:c.683+234_683+235delinsAG MANE Select	ENSP00000155840.2:n.683+234_683+235delinsAG
ENST00000335475.6:c.302+234_302+235delinsAG	ENSP00000334497.5:n.302+234_302+235delinsAG
ENST00000646564.1:c.124-11798_124-11797delinsAG	ENSP00000495806.1:n.124-11798_124-11797delinsAG
ENST00000155840.9:c.683+234_683+235delinsAG	ENSP00000155840.2:n.683+234_683+235delinsAG
ENST00000335475.5:c.302+234_302+235delinsAG	ENSP00000334497.5:n.302+234_302+235delinsAG
ENST00000496887.6:c.422+234_422+235delinsAG	ENSP00000434560.1:n.422+234_422+235delinsAG
NM_000218.2:c.683+234_683+235delinsAG , LRG_287t1:c.683+234_683+235delinsAG	NP_000209.2:n.683+234_683+235delinsAG
NM_181798.1:c.302+234_302+235delinsAG , LRG_287t2:c.302+234_302+235delinsAG	NP_861463.1:n.302+234_302+235delinsAG
NM_000218.3:c.683+234_683+235delinsAG MANE Select	NP_000209.2:n.683+234_683+235delinsAG