Canonical Allele Identifier: CA1752461511

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974640_150974642delinsCTG , CM000669.2:g.150974640_150974642delinsCTG	GRCh38
NC_000007.13:g.150671728_150671730delinsCTG , CM000669.1:g.150671728_150671730delinsCTG	GRCh37
NC_000007.12:g.150302661_150302663delinsCTG	NCBI36
NG_008916.1:g.8285_8287delinsCAG , LRG_288:g.8285_8287delinsCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.307+69_307+71delinsCAG MANE Select	ENSP00000262186.5:n.307+69_307+71delinsCA...
ENST00000262186.9:c.307+69_307+71delinsCAG	ENSP00000262186.5:n.307+69_307+71delinsCA...
ENST00000430723.4:c.130+69_130+71delinsCAG	ENSP00000387657.4:n.130+69_130+71delinsCA...
ENST00000532957.5:n.530+69_530+71delinsCAG
NM_000238.3:c.307+69_307+71delinsCAG , LRG_288t1:c.307+69_307+71delinsCAG	NP_000229.1:n.307+69_307+71delinsCAG
NM_172056.2:c.307+69_307+71delinsCAG , LRG_288t2:c.307+69_307+71delinsCAG	NP_742053.1:n.307+69_307+71delinsCAG
XM_011516186.1:c.307+69_307+71delinsCAG	XP_011514488.1:n.307+69_307+71delinsCAG
XM_011516186.3:c.307+69_307+71delinsCAG	XP_011514488.1:n.307+69_307+71delinsCAG
XM_017012196.1:c.130+69_130+71delinsCAG	XP_016867685.1:n.130+69_130+71delinsCAG
NM_000238.4:c.307+69_307+71delinsCAG MANE Select	NP_000229.1:n.307+69_307+71delinsCAG