Canonical Allele Identifier: CA1752461252

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974554_150974558delinsCCCCG , CM000669.2:g.150974554_150974558delinsCCCCG	GRCh38
NC_000007.13:g.150671642_150671646delinsCCCCG , CM000669.1:g.150671642_150671646delinsCCCCG	GRCh37
NC_000007.12:g.150302575_150302579delinsCCCCG	NCBI36
NG_008916.1:g.8369_8373delinsCGGGG , LRG_288:g.8369_8373delinsCGGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.307+153_307+157delinsCGGGG MANE Select	ENSP00000262186.5:n.307+153_307+157delinsCGGGG
ENST00000262186.9:c.307+153_307+157delinsCGGGG	ENSP00000262186.5:n.307+153_307+157delinsCGGGG
ENST00000430723.4:c.130+153_130+157delinsCGGGG	ENSP00000387657.4:n.130+153_130+157delinsCGGGG
ENST00000532957.5:n.530+153_530+157delinsCGGGG
NM_000238.3:c.307+153_307+157delinsCGGGG , LRG_288t1:c.307+153_307+157delinsCGGGG	NP_000229.1:n.307+153_307+157delinsCGGGG
NM_172056.2:c.307+153_307+157delinsCGGGG , LRG_288t2:c.307+153_307+157delinsCGGGG	NP_742053.1:n.307+153_307+157delinsCGGGG
XM_011516186.1:c.307+153_307+157delinsCGGGG	XP_011514488.1:n.307+153_307+157delinsCGGGG
XM_011516186.3:c.307+153_307+157delinsCGGGG	XP_011514488.1:n.307+153_307+157delinsCGGGG
XM_017012196.1:c.130+153_130+157delinsCGGGG	XP_016867685.1:n.130+153_130+157delinsCGGGG
NM_000238.4:c.307+153_307+157delinsCGGGG MANE Select	NP_000229.1:n.307+153_307+157delinsCGGGG