Canonical Allele Identifier: CA1752461572

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974666_150974668delinsCTT , CM000669.2:g.150974666_150974668delinsCTT	GRCh38
NC_000007.13:g.150671754_150671756delinsCTT , CM000669.1:g.150671754_150671756delinsCTT	GRCh37
NC_000007.12:g.150302687_150302689delinsCTT	NCBI36
NG_008916.1:g.8259_8261delinsAAG , LRG_288:g.8259_8261delinsAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.307+43_307+45delinsAAG MANE Select	ENSP00000262186.5:n.307+43_307+45delinsAAG
ENST00000262186.9:c.307+43_307+45delinsAAG	ENSP00000262186.5:n.307+43_307+45delinsAAG
ENST00000430723.4:c.130+43_130+45delinsAAG	ENSP00000387657.4:n.130+43_130+45delinsAAG
ENST00000532957.5:n.530+43_530+45delinsAAG
NM_000238.3:c.307+43_307+45delinsAAG , LRG_288t1:c.307+43_307+45delinsAAG	NP_000229.1:n.307+43_307+45delinsAAG
NM_172056.2:c.307+43_307+45delinsAAG , LRG_288t2:c.307+43_307+45delinsAAG	NP_742053.1:n.307+43_307+45delinsAAG
XM_011516186.1:c.307+43_307+45delinsAAG	XP_011514488.1:n.307+43_307+45delinsAAG
XM_011516186.3:c.307+43_307+45delinsAAG	XP_011514488.1:n.307+43_307+45delinsAAG
XM_017012196.1:c.130+43_130+45delinsAAG	XP_016867685.1:n.130+43_130+45delinsAAG
NM_000238.4:c.307+43_307+45delinsAAG MANE Select	NP_000229.1:n.307+43_307+45delinsAAG