Canonical Allele Identifier: CA658761338

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587619_2587621dup , CM000673.2:g.2587619_2587621dup	GRCh38
NC_000011.9:g.2608849_2608851dup , CM000673.1:g.2608849_2608851dup	GRCh37
NC_000011.8:g.2565425_2565427dup	NCBI36
NG_008935.1:g.147629_147631dup , LRG_287:g.147629_147631dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.821_823dup	ENSP00000434560.2:p.Lys274_Ile275insLys
ENST00000646564.2:c.638_640dup	ENSP00000495806.2:p.Lys213_Ile214insLys
ENST00000155840.12:c.1178_1180dup MANE Select	ENSP00000155840.2:p.Lys393_Ile394insLys
ENST00000335475.6:c.797_799dup	ENSP00000334497.5:p.Lys266_Ile267insLys
ENST00000646564.1:c.284_286dup	ENSP00000495806.1:p.Lys95_Ile96insLys
ENST00000155840.9:c.1178_1180dup	ENSP00000155840.2:p.Lys393_Ile394insLys
ENST00000335475.5:c.797_799dup	ENSP00000334497.5:p.Lys266_Ile267insLys
NM_000218.2:c.1178_1180dup , LRG_287t1:c.1178_1180dup	NP_000209.2:p.Lys393_Ile394insLys
NM_181798.1:c.797_799dup , LRG_287t2:c.797_799dup	NP_861463.1:p.Lys266_Ile267insLys
NM_000218.3:c.1178_1180dup MANE Select	NP_000209.2:p.Lys393_Ile394insLys