Canonical Allele Identifier: CA2685608333

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150951640-A-AGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951641_150951642insTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCG , CM000669.2:g.150951641_150951642insTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCG	GRCh38
NC_000007.13:g.150648729_150648730insTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCG , CM000669.1:g.150648729_150648730insTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCG	GRCh37
NC_000007.12:g.150279662_150279663insTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCG	NCBI36
NG_008916.1:g.31286_31287insGGGCGGCGGGGAGAGCCCACGGTGGAGGAACCCAAGTTGGAGGAAAC , LRG_288:g.31286_31287insGGGCGGCGGGGAGAGCCCACGGTGGAGGAACCCAAGTTGGAGGAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1050_1051insGGGCGGCGGGGAGAGCCCACGGTGGAGGAACCCAAGTTGGAGGAAAC
ENST00000684241.1:n.2585_2586insGGGCGGCGGGGAGAGCCCACGGTGGAGGAACCCAAGTTGGAGGAAAC
ENST00000262186.10:c.1752_1753insGGGCGGCGGGGAGAGCCCACGGTGGAGGAACCCAAGTTGGAGGAAAC MANE Select	ENSP00000262186.5:p.Trp585GlyfsTer25
ENST00000330883.9:c.732_733insGGGCGGCGGGGAGAGCCCACGGTGGAGGAACCCAAGTTGGAGGAAAC	ENSP00000328531.4:p.Trp245GlyfsTer25
ENST00000262186.9:c.1752_1753insGGGCGGCGGGGAGAGCCCACGGTGGAGGAACCCAAGTTGGAGGAAAC	ENSP00000262186.5:p.Trp585GlyfsTer25
ENST00000330883.8:c.732_733insGGGCGGCGGGGAGAGCCCACGGTGGAGGAACCCAAGTTGGAGGAAAC	ENSP00000328531.4:p.Trp245GlyfsTer25
ENST00000430723.4:c.1404_1405insGGGCGGCGGGGAGAGCCCACGGTGGAGGAACCCAAGTTGGAGGAAAC	ENSP00000387657.4:p.Trp469GlyfsTer25
ENST00000461280.1:n.1039_1040insGGGCGGCGGGGAGAGCCCACGGTGGAGGAACCCAAGTTGGAGGAAAC
ENST00000473610.5:n.1057_1058insGGGCGGCGGGGAGAGCCCACGGTGGAGGAACCCAAGTTGGAGGAAAC
ENST00000532957.5:n.1975_1976insGGGCGGCGGGGAGAGCCCACGGTGGAGGAACCCAAGTTGGAGGAAAC
NM_000238.3:c.1752_1753insGGGCGGCGGGGAGAGCCCACGGTGGAGGAACCCAAGTTGGAGGAAAC , LRG_288t1:c.1752_1753insGGGCGGCGGGGAGAGCCCACGGTGGAGGAACCCAAGTTGGAGGAAAC	NP_000229.1:p.Trp585GlyfsTer25
NM_001204798.1:c.732_733insGGGCGGCGGGGAGAGCCCACGGTGGAGGAACCCAAGTTGGAGGAAAC	NP_001191727.1:p.Trp245GlyfsTer25
NM_172056.2:c.1752_1753insGGGCGGCGGGGAGAGCCCACGGTGGAGGAACCCAAGTTGGAGGAAAC , LRG_288t2:c.1752_1753insGGGCGGCGGGGAGAGCCCACGGTGGAGGAACCCAAGTTGGAGGAAAC	NP_742053.1:p.Trp585GlyfsTer25
NM_172057.2:c.732_733insGGGCGGCGGGGAGAGCCCACGGTGGAGGAACCCAAGTTGGAGGAAAC , LRG_288t3:c.732_733insGGGCGGCGGGGAGAGCCCACGGTGGAGGAACCCAAGTTGGAGGAAAC	NP_742054.1:p.Trp245GlyfsTer25
XM_011516185.1:c.1452_1453insGGGCGGCGGGGAGAGCCCACGGTGGAGGAACCCAAGTTGGAGGAAAC	XP_011514487.1:p.Trp485GlyfsTer25
XM_011516186.1:c.1752_1753insGGGCGGCGGGGAGAGCCCACGGTGGAGGAACCCAAGTTGGAGGAAAC	XP_011514488.1:p.Trp585GlyfsTer25
XM_011516185.2:c.1452_1453insGGGCGGCGGGGAGAGCCCACGGTGGAGGAACCCAAGTTGGAGGAAAC	XP_011514487.1:p.Trp485GlyfsTer25
XM_011516186.3:c.1752_1753insGGGCGGCGGGGAGAGCCCACGGTGGAGGAACCCAAGTTGGAGGAAAC	XP_011514488.1:p.Trp585GlyfsTer25
XM_017012195.1:c.1602_1603insGGGCGGCGGGGAGAGCCCACGGTGGAGGAACCCAAGTTGGAGGAAAC	XP_016867684.1:p.Trp535GlyfsTer25
XM_017012196.1:c.1575_1576insGGGCGGCGGGGAGAGCCCACGGTGGAGGAACCCAAGTTGGAGGAAAC	XP_016867685.1:p.Trp526GlyfsTer25
NM_000238.4:c.1752_1753insGGGCGGCGGGGAGAGCCCACGGTGGAGGAACCCAAGTTGGAGGAAAC MANE Select	NP_000229.1:p.Trp585GlyfsTer25
NM_001204798.2:c.732_733insGGGCGGCGGGGAGAGCCCACGGTGGAGGAACCCAAGTTGGAGGAAAC	NP_001191727.1:p.Trp245GlyfsTer25
NM_172057.3:c.732_733insGGGCGGCGGGGAGAGCCCACGGTGGAGGAACCCAAGTTGGAGGAAAC	NP_742054.1:p.Trp245GlyfsTer25