Canonical Allele Identifier: CA1752416508

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957234_150957235delinsCA , CM000669.2:g.150957234_150957235delinsCA	GRCh38
NC_000007.13:g.150654322_150654323delinsCA , CM000669.1:g.150654322_150654323delinsCA	GRCh37
NC_000007.12:g.150285255_150285256delinsCA	NCBI36
NG_008916.1:g.25692_25693delinsTG , LRG_288:g.25692_25693delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1961+56_1961+57delinsTG
ENST00000262186.10:c.1128+56_1128+57delinsTG MANE Select	ENSP00000262186.5:n.1128+56_1128+57delinsTG
ENST00000262186.9:c.1128+56_1128+57delinsTG	ENSP00000262186.5:n.1128+56_1128+57delinsTG
ENST00000430723.4:c.780+56_780+57delinsTG	ENSP00000387657.4:n.780+56_780+57delinsTG
ENST00000532957.5:n.1351+56_1351+57delinsTG
NM_000238.3:c.1128+56_1128+57delinsTG , LRG_288t1:c.1128+56_1128+57delinsTG	NP_000229.1:n.1128+56_1128+57delinsTG
NM_172056.2:c.1128+56_1128+57delinsTG , LRG_288t2:c.1128+56_1128+57delinsTG	NP_742053.1:n.1128+56_1128+57delinsTG
XM_011516185.1:c.828+56_828+57delinsTG	XP_011514487.1:n.828+56_828+57delinsTG
XM_011516186.1:c.1128+56_1128+57delinsTG	XP_011514488.1:n.1128+56_1128+57delinsTG
XM_011516185.2:c.828+56_828+57delinsTG	XP_011514487.1:n.828+56_828+57delinsTG
XM_011516186.3:c.1128+56_1128+57delinsTG	XP_011514488.1:n.1128+56_1128+57delinsTG
XM_017012195.1:c.978+56_978+57delinsTG	XP_016867684.1:n.978+56_978+57delinsTG
XM_017012196.1:c.951+56_951+57delinsTG	XP_016867685.1:n.951+56_951+57delinsTG
NM_000238.4:c.1128+56_1128+57delinsTG MANE Select	NP_000229.1:n.1128+56_1128+57delinsTG