Canonical Allele Identifier: CA1752417087

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957534_150957540delinsAGCCCAG , CM000669.2:g.150957534_150957540delinsAGCCCAG	GRCh38
NC_000007.13:g.150654622_150654628delinsAGCCCAG , CM000669.1:g.150654622_150654628delinsAGCCCAG	GRCh37
NC_000007.12:g.150285555_150285561delinsAGCCCAG	NCBI36
NG_008916.1:g.25387_25393delinsCTGGGCT , LRG_288:g.25387_25393delinsCTGGGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1750-38_1750-32delinsCTGGGCT
ENST00000262186.10:c.917-38_917-32delinsCTGGGCT MANE Select	ENSP00000262186.5:n.917-38_917-32delinsCTGGGCT
ENST00000262186.9:c.917-38_917-32delinsCTGGGCT	ENSP00000262186.5:n.917-38_917-32delinsCTGGGCT
ENST00000430723.4:c.569-38_569-32delinsCTGGGCT	ENSP00000387657.4:n.569-38_569-32delinsCTGGGCT
ENST00000532957.5:n.1140-38_1140-32delinsCTGGGCT
NM_000238.3:c.917-38_917-32delinsCTGGGCT , LRG_288t1:c.917-38_917-32delinsCTGGGCT	NP_000229.1:n.917-38_917-32delinsCTGGGCT
NM_172056.2:c.917-38_917-32delinsCTGGGCT , LRG_288t2:c.917-38_917-32delinsCTGGGCT	NP_742053.1:n.917-38_917-32delinsCTGGGCT
XM_011516185.1:c.617-38_617-32delinsCTGGGCT	XP_011514487.1:n.617-38_617-32delinsCTGGGCT
XM_011516186.1:c.917-38_917-32delinsCTGGGCT	XP_011514488.1:n.917-38_917-32delinsCTGGGCT
XM_011516185.2:c.617-38_617-32delinsCTGGGCT	XP_011514487.1:n.617-38_617-32delinsCTGGGCT
XM_011516186.3:c.917-38_917-32delinsCTGGGCT	XP_011514488.1:n.917-38_917-32delinsCTGGGCT
XM_017012195.1:c.767-38_767-32delinsCTGGGCT	XP_016867684.1:n.767-38_767-32delinsCTGGGCT
XM_017012196.1:c.740-38_740-32delinsCTGGGCT	XP_016867685.1:n.740-38_740-32delinsCTGGGCT
NM_000238.4:c.917-38_917-32delinsCTGGGCT MANE Select	NP_000229.1:n.917-38_917-32delinsCTGGGCT