Canonical Allele Identifier: CA1752411506

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952457_150952484delinsCGAAGGGGATGGCGGCCACCATGTCGAT , CM000669.2:g.150952457_150952484delinsCGAAGGGGATGGCGGCCACCATGTCGAT	GRCh38
NC_000007.13:g.150649545_150649572delinsCGAAGGGGATGGCGGCCACCATGTCGAT , CM000669.1:g.150649545_150649572delinsCGAAGGGGATGGCGGCCACCATGTCGAT	GRCh37
NC_000007.12:g.150280478_150280505delinsCGAAGGGGATGGCGGCCACCATGTCGAT	NCBI36
NG_008916.1:g.30443_30470delinsATCGACATGGTGGCCGCCATCCCCTTCG , LRG_288:g.30443_30470delinsATCGACATGGTGGCCGCCATCCCCTTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.796_823delinsATCGACATGGTGGCCGCCATCCCCTTCG
ENST00000684116.1:n.391_418delinsATCGACATGGTGGCCGCCATCCCCTTCG
ENST00000684241.1:n.2331_2358delinsATCGACATGGTGGCCGCCATCCCCTTCG
ENST00000262186.10:c.1498_1525delinsATCGACATGGTGGCCGCCATCCCCTTCG MANE Select	ENSP00000262186.5:p.Ile500=
ENST00000330883.9:c.478_505delinsATCGACATGGTGGCCGCCATCCCCTTCG	ENSP00000328531.4:p.Ile160=
ENST00000262186.9:c.1498_1525delinsATCGACATGGTGGCCGCCATCCCCTTCG	ENSP00000262186.5:p.Ile500=
ENST00000330883.8:c.478_505delinsATCGACATGGTGGCCGCCATCCCCTTCG	ENSP00000328531.4:p.Ile160=
ENST00000430723.4:c.1150_1177delinsATCGACATGGTGGCCGCCATCCCCTTCG	ENSP00000387657.4:p.Ile384=
ENST00000461280.1:n.785_812delinsATCGACATGGTGGCCGCCATCCCCTTCG
ENST00000473610.5:n.803_830delinsATCGACATGGTGGCCGCCATCCCCTTCG
ENST00000532957.5:n.1721_1748delinsATCGACATGGTGGCCGCCATCCCCTTCG
NM_000238.3:c.1498_1525delinsATCGACATGGTGGCCGCCATCCCCTTCG , LRG_288t1:c.1498_1525delinsATCGACATGGTGGCCGCCATCCCCTTCG	NP_000229.1:p.Ile500=
NM_001204798.1:c.478_505delinsATCGACATGGTGGCCGCCATCCCCTTCG	NP_001191727.1:p.Ile160=
NM_172056.2:c.1498_1525delinsATCGACATGGTGGCCGCCATCCCCTTCG , LRG_288t2:c.1498_1525delinsATCGACATGGTGGCCGCCATCCCCTTCG	NP_742053.1:p.Ile500=
NM_172057.2:c.478_505delinsATCGACATGGTGGCCGCCATCCCCTTCG , LRG_288t3:c.478_505delinsATCGACATGGTGGCCGCCATCCCCTTCG	NP_742054.1:p.Ile160=
XM_011516185.1:c.1198_1225delinsATCGACATGGTGGCCGCCATCCCCTTCG	XP_011514487.1:p.Ile400=
XM_011516186.1:c.1498_1525delinsATCGACATGGTGGCCGCCATCCCCTTCG	XP_011514488.1:p.Ile500=
XM_011516185.2:c.1198_1225delinsATCGACATGGTGGCCGCCATCCCCTTCG	XP_011514487.1:p.Ile400=
XM_011516186.3:c.1498_1525delinsATCGACATGGTGGCCGCCATCCCCTTCG	XP_011514488.1:p.Ile500=
XM_017012195.1:c.1348_1375delinsATCGACATGGTGGCCGCCATCCCCTTCG	XP_016867684.1:p.Ile450=
XM_017012196.1:c.1321_1348delinsATCGACATGGTGGCCGCCATCCCCTTCG	XP_016867685.1:p.Ile441=
NM_000238.4:c.1498_1525delinsATCGACATGGTGGCCGCCATCCCCTTCG MANE Select	NP_000229.1:p.Ile500=
NM_001204798.2:c.478_505delinsATCGACATGGTGGCCGCCATCCCCTTCG	NP_001191727.1:p.Ile160=
NM_172057.3:c.478_505delinsATCGACATGGTGGCCGCCATCCCCTTCG	NP_742054.1:p.Ile160=