Canonical Allele Identifier: CA2695213193

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585256_2585267dup , CM000673.2:g.2585256_2585267dup	GRCh38
NC_000011.9:g.2606486_2606497dup , CM000673.1:g.2606486_2606497dup	GRCh37
NC_000011.8:g.2563062_2563073dup	NCBI36
NG_008935.1:g.145266_145277dup , LRG_287:g.145266_145277dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.771+1711_771+1722dup	ENSP00000434560.2:n.771+1711_771+1722dup
ENST00000646564.2:c.588+1711_588+1722dup	ENSP00000495806.2:n.588+1711_588+1722dup
ENST00000155840.12:c.1077_1088dup MANE Select	ENSP00000155840.2:p.Lys362_His363insGlnAr...
ENST00000335475.6:c.696_707dup	ENSP00000334497.5:p.Lys235_His236insGlnAr...
ENST00000646564.1:c.234+1711_234+1722dup	ENSP00000495806.1:n.234+1711_234+1722dup
ENST00000155840.9:c.1077_1088dup	ENSP00000155840.2:p.Lys362_His363insGlnAr...
ENST00000335475.5:c.696_707dup	ENSP00000334497.5:p.Lys235_His236insGlnAr...
NM_000218.2:c.1077_1088dup , LRG_287t1:c.1077_1088dup	NP_000209.2:p.Lys362_His363insGlnArgGlnLy...
NM_181798.1:c.696_707dup , LRG_287t2:c.696_707dup	NP_861463.1:p.Lys235_His236insGlnArgGlnLy...
NM_000218.3:c.1077_1088dup MANE Select	NP_000209.2:p.Lys362_His363insGlnArgGlnLy...