Canonical Allele Identifier: CA1752416748

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957391_150957392delinsAG , CM000669.2:g.150957391_150957392delinsAG	GRCh38
NC_000007.13:g.150654479_150654480delinsAG , CM000669.1:g.150654479_150654480delinsAG	GRCh37
NC_000007.12:g.150285412_150285413delinsAG	NCBI36
NG_008916.1:g.25535_25536delinsCT , LRG_288:g.25535_25536delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1860_1861delinsCT
ENST00000262186.10:c.1027_1028delinsCT MANE Select	ENSP00000262186.5:p.Leu343=
ENST00000262186.9:c.1027_1028delinsCT	ENSP00000262186.5:p.Leu343=
ENST00000430723.4:c.679_680delinsCT	ENSP00000387657.4:p.Leu227=
ENST00000532957.5:n.1250_1251delinsCT
NM_000238.3:c.1027_1028delinsCT , LRG_288t1:c.1027_1028delinsCT	NP_000229.1:p.Leu343=
NM_172056.2:c.1027_1028delinsCT , LRG_288t2:c.1027_1028delinsCT	NP_742053.1:p.Leu343=
XM_011516185.1:c.727_728delinsCT	XP_011514487.1:p.Leu243=
XM_011516186.1:c.1027_1028delinsCT	XP_011514488.1:p.Leu343=
XM_011516185.2:c.727_728delinsCT	XP_011514487.1:p.Leu243=
XM_011516186.3:c.1027_1028delinsCT	XP_011514488.1:p.Leu343=
XM_017012195.1:c.877_878delinsCT	XP_016867684.1:p.Leu293=
XM_017012196.1:c.850_851delinsCT	XP_016867685.1:p.Leu284=
NM_000238.4:c.1027_1028delinsCT MANE Select	NP_000229.1:p.Leu343=