Canonical Allele Identifier: CA2574728275

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585193_2585195dup , CM000673.2:g.2585193_2585195dup	GRCh38
NC_000011.9:g.2606423_2606425dup , CM000673.1:g.2606423_2606425dup	GRCh37
NC_000011.8:g.2562999_2563001dup	NCBI36
NG_008935.1:g.145203_145205dup , LRG_287:g.145203_145205dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.771+1648_771+1650dup	ENSP00000434560.2:n.771+1648_771+1650dup
ENST00000646564.2:c.588+1648_588+1650dup	ENSP00000495806.2:n.588+1648_588+1650dup
ENST00000155840.12:c.1033-19_1033-17dup MANE Select	ENSP00000155840.2:n.1033-19_1033-17dup
ENST00000335475.6:c.652-19_652-17dup	ENSP00000334497.5:n.652-19_652-17dup
ENST00000646564.1:c.234+1648_234+1650dup	ENSP00000495806.1:n.234+1648_234+1650dup
ENST00000155840.9:c.1033-19_1033-17dup	ENSP00000155840.2:n.1033-19_1033-17dup
ENST00000335475.5:c.652-19_652-17dup	ENSP00000334497.5:n.652-19_652-17dup
NM_000218.2:c.1033-19_1033-17dup , LRG_287t1:c.1033-19_1033-17dup	NP_000209.2:n.1033-19_1033-17dup
NM_181798.1:c.652-19_652-17dup , LRG_287t2:c.652-19_652-17dup	NP_861463.1:n.652-19_652-17dup
NM_000218.3:c.1033-19_1033-17dup MANE Select	NP_000209.2:n.1033-19_1033-17dup