Canonical Allele Identifier: CA1752418602

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958406_150958415delinsGCGCCCGCGC , CM000669.2:g.150958406_150958415delinsGCGCCCGCGC	GRCh38
NC_000007.13:g.150655494_150655503delinsGCGCCCGCGC , CM000669.1:g.150655494_150655503delinsGCGCCCGCGC	GRCh37
NC_000007.12:g.150286427_150286436delinsGCGCCCGCGC	NCBI36
NG_008916.1:g.24512_24521delinsGCGCGGGCGC , LRG_288:g.24512_24521delinsGCGCGGGCGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1393_1402delinsGCGCGGGCGC
ENST00000262186.10:c.560_569delinsGCGCGGGCGC MANE Select	ENSP00000262186.5:p.Gly187=
ENST00000262186.9:c.560_569delinsGCGCGGGCGC	ENSP00000262186.5:p.Gly187=
ENST00000430723.4:c.235-23_235-14delinsGCGCGGGCGC	ENSP00000387657.4:n.235-23_235-14delinsGCGCGGGCGC
ENST00000532957.5:n.783_792delinsGCGCGGGCGC
NM_000238.3:c.560_569delinsGCGCGGGCGC , LRG_288t1:c.560_569delinsGCGCGGGCGC	NP_000229.1:p.Gly187=
NM_172056.2:c.560_569delinsGCGCGGGCGC , LRG_288t2:c.560_569delinsGCGCGGGCGC	NP_742053.1:p.Gly187=
XM_011516185.1:c.260_269delinsGCGCGGGCGC	XP_011514487.1:p.Gly87=
XM_011516186.1:c.560_569delinsGCGCGGGCGC	XP_011514488.1:p.Gly187=
XM_011516185.2:c.260_269delinsGCGCGGGCGC	XP_011514487.1:p.Gly87=
XM_011516186.3:c.560_569delinsGCGCGGGCGC	XP_011514488.1:p.Gly187=
XM_017012195.1:c.410_419delinsGCGCGGGCGC	XP_016867684.1:p.Gly137=
XM_017012196.1:c.383_392delinsGCGCGGGCGC	XP_016867685.1:p.Gly128=
NM_000238.4:c.560_569delinsGCGCGGGCGC MANE Select	NP_000229.1:p.Gly187=