Canonical Allele Identifier: CA1752415051

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150955738_150955748delinsGTGGCGTGGGC , CM000669.2:g.150955738_150955748delinsGTGGCGTGGGC	GRCh38
NC_000007.13:g.150652826_150652836delinsGTGGCGTGGGC , CM000669.1:g.150652826_150652836delinsGTGGCGTGGGC	GRCh37
NC_000007.12:g.150283759_150283769delinsGTGGCGTGGGC	NCBI36
NG_008916.1:g.27179_27189delinsGCCCACGCCAC , LRG_288:g.27179_27189delinsGCCCACGCCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.74_84delinsGCCCACGCCAC
ENST00000684241.1:n.1961+1543_1961+1553delinsGCCCACGCCAC
ENST00000262186.10:c.1128+1543_1128+1553delinsGCCCACGCCAC MANE Select	ENSP00000262186.5:n.1128+1543_1128+1553delinsGCCCACGCCAC
ENST00000330883.9:c.-245_-235delinsGCCCACGCCAC	ENSP00000328531.4:n.-245_-235delinsGCCCACGCCAC
ENST00000262186.9:c.1128+1543_1128+1553delinsGCCCACGCCAC	ENSP00000262186.5:n.1128+1543_1128+1553delinsGCCCACGCCAC
ENST00000330883.8:c.-245_-235delinsGCCCACGCCAC	ENSP00000328531.4:n.-245_-235delinsGCCCACGCCAC
ENST00000430723.4:c.780+1543_780+1553delinsGCCCACGCCAC	ENSP00000387657.4:n.780+1543_780+1553delinsGCCCACGCCAC
ENST00000461280.1:n.63_73delinsGCCCACGCCAC
ENST00000473610.5:n.81_91delinsGCCCACGCCAC
ENST00000532957.5:n.1351+1543_1351+1553delinsGCCCACGCCAC
NM_000238.3:c.1128+1543_1128+1553delinsGCCCACGCCAC , LRG_288t1:c.1128+1543_1128+1553delinsGCCCACGCCAC	NP_000229.1:n.1128+1543_1128+1553delinsGCCCACGCCAC
NM_001204798.1:c.-245_-235delinsGCCCACGCCAC	NP_001191727.1:n.-245_-235delinsGCCCACGCCAC
NM_172056.2:c.1128+1543_1128+1553delinsGCCCACGCCAC , LRG_288t2:c.1128+1543_1128+1553delinsGCCCACGCCAC	NP_742053.1:n.1128+1543_1128+1553delinsGCCCACGCCAC
NM_172057.2:c.-245_-235delinsGCCCACGCCAC , LRG_288t3:c.-245_-235delinsGCCCACGCCAC	NP_742054.1:n.-245_-235delinsGCCCACGCCAC
XM_011516185.1:c.828+1543_828+1553delinsGCCCACGCCAC	XP_011514487.1:n.828+1543_828+1553delinsGCCCACGCCAC
XM_011516186.1:c.1128+1543_1128+1553delinsGCCCACGCCAC	XP_011514488.1:n.1128+1543_1128+1553delinsGCCCACGCCAC
XM_011516185.2:c.828+1543_828+1553delinsGCCCACGCCAC	XP_011514487.1:n.828+1543_828+1553delinsGCCCACGCCAC
XM_011516186.3:c.1128+1543_1128+1553delinsGCCCACGCCAC	XP_011514488.1:n.1128+1543_1128+1553delinsGCCCACGCCAC
XM_017012195.1:c.978+1543_978+1553delinsGCCCACGCCAC	XP_016867684.1:n.978+1543_978+1553delinsGCCCACGCCAC
XM_017012196.1:c.951+1543_951+1553delinsGCCCACGCCAC	XP_016867685.1:n.951+1543_951+1553delinsGCCCACGCCAC
NM_000238.4:c.1128+1543_1128+1553delinsGCCCACGCCAC MANE Select	NP_000229.1:n.1128+1543_1128+1553delinsGCCCACGCCAC
NM_001204798.2:c.-245_-235delinsGCCCACGCCAC	NP_001191727.1:n.-245_-235delinsGCCCACGCCAC
NM_172057.3:c.-245_-235delinsGCCCACGCCAC	NP_742054.1:n.-245_-235delinsGCCCACGCCAC