Canonical Allele Identifier: CA2742038503

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957534_150957535delinsAG , CM000669.2:g.150957534_150957535delinsAG	GRCh38
NC_000007.13:g.150654622_150654623delinsAG , CM000669.1:g.150654622_150654623delinsAG	GRCh37
NC_000007.12:g.150285555_150285556delinsAG	NCBI36
NG_008916.1:g.25392_25393delinsCT , LRG_288:g.25392_25393delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1750-33_1750-32delinsCT
ENST00000262186.10:c.917-33_917-32delinsCT MANE Select	ENSP00000262186.5:n.917-33_917-32delinsCT
ENST00000262186.9:c.917-33_917-32delinsCT	ENSP00000262186.5:n.917-33_917-32delinsCT
ENST00000430723.4:c.569-33_569-32delinsCT	ENSP00000387657.4:n.569-33_569-32delinsCT
ENST00000532957.5:n.1140-33_1140-32delinsCT
NM_000238.3:c.917-33_917-32delinsCT , LRG_288t1:c.917-33_917-32delinsCT	NP_000229.1:n.917-33_917-32delinsCT
NM_172056.2:c.917-33_917-32delinsCT , LRG_288t2:c.917-33_917-32delinsCT	NP_742053.1:n.917-33_917-32delinsCT
XM_011516185.1:c.617-33_617-32delinsCT	XP_011514487.1:n.617-33_617-32delinsCT
XM_011516186.1:c.917-33_917-32delinsCT	XP_011514488.1:n.917-33_917-32delinsCT
XM_011516185.2:c.617-33_617-32delinsCT	XP_011514487.1:n.617-33_617-32delinsCT
XM_011516186.3:c.917-33_917-32delinsCT	XP_011514488.1:n.917-33_917-32delinsCT
XM_017012195.1:c.767-33_767-32delinsCT	XP_016867684.1:n.767-33_767-32delinsCT
XM_017012196.1:c.740-33_740-32delinsCT	XP_016867685.1:n.740-33_740-32delinsCT
NM_000238.4:c.917-33_917-32delinsCT MANE Select	NP_000229.1:n.917-33_917-32delinsCT