Canonical Allele Identifier: CA1948242103

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571662_2571663delinsGA , CM000673.2:g.2571662_2571663delinsGA	GRCh38
NC_000011.9:g.2592892_2592893delinsGA , CM000673.1:g.2592892_2592893delinsGA	GRCh37
NC_000011.8:g.2549468_2549469delinsGA	NCBI36
NG_008935.1:g.131672_131673delinsGA , LRG_287:g.131672_131673delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.422+259_422+260delinsGA	ENSP00000434560.2:n.422+259_422+260delinsGA
ENST00000646564.2:c.478-11773_478-11772delinsGA	ENSP00000495806.2:n.478-11773_478-11772delinsGA
ENST00000155840.12:c.683+259_683+260delinsGA MANE Select	ENSP00000155840.2:n.683+259_683+260delinsGA
ENST00000335475.6:c.302+259_302+260delinsGA	ENSP00000334497.5:n.302+259_302+260delinsGA
ENST00000646564.1:c.124-11773_124-11772delinsGA	ENSP00000495806.1:n.124-11773_124-11772delinsGA
ENST00000155840.9:c.683+259_683+260delinsGA	ENSP00000155840.2:n.683+259_683+260delinsGA
ENST00000335475.5:c.302+259_302+260delinsGA	ENSP00000334497.5:n.302+259_302+260delinsGA
ENST00000496887.6:c.422+259_422+260delinsGA	ENSP00000434560.1:n.422+259_422+260delinsGA
NM_000218.2:c.683+259_683+260delinsGA , LRG_287t1:c.683+259_683+260delinsGA	NP_000209.2:n.683+259_683+260delinsGA
NM_181798.1:c.302+259_302+260delinsGA , LRG_287t2:c.302+259_302+260delinsGA	NP_861463.1:n.302+259_302+260delinsGA
NM_000218.3:c.683+259_683+260delinsGA MANE Select	NP_000209.2:n.683+259_683+260delinsGA