Canonical Allele Identifier: CA1752414957

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150955626_150955637delinsAGAGCAGCCCCT , CM000669.2:g.150955626_150955637delinsAGAGCAGCCCCT	GRCh38
NC_000007.13:g.150652714_150652725delinsAGAGCAGCCCCT , CM000669.1:g.150652714_150652725delinsAGAGCAGCCCCT	GRCh37
NC_000007.12:g.150283647_150283658delinsAGAGCAGCCCCT	NCBI36
NG_008916.1:g.27290_27301delinsAGGGGCTGCTCT , LRG_288:g.27290_27301delinsAGGGGCTGCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.185_196delinsAGGGGCTGCTCT
ENST00000684241.1:n.1961+1654_1961+1665delinsAGGGGCTGCTCT
ENST00000262186.10:c.1128+1654_1128+1665delinsAGGGGCTGCTCT MANE Select	ENSP00000262186.5:n.1128+1654_1128+1665delinsAGGGGCTGCTCT
ENST00000330883.9:c.-134_-123delinsAGGGGCTGCTCT	ENSP00000328531.4:n.-134_-123delinsAGGGGCTGCTCT
ENST00000262186.9:c.1128+1654_1128+1665delinsAGGGGCTGCTCT	ENSP00000262186.5:n.1128+1654_1128+1665delinsAGGGGCTGCTCT
ENST00000330883.8:c.-134_-123delinsAGGGGCTGCTCT	ENSP00000328531.4:n.-134_-123delinsAGGGGCTGCTCT
ENST00000430723.4:c.780+1654_780+1665delinsAGGGGCTGCTCT	ENSP00000387657.4:n.780+1654_780+1665delinsAGGGGCTGCTCT
ENST00000461280.1:n.174_185delinsAGGGGCTGCTCT
ENST00000473610.5:n.192_203delinsAGGGGCTGCTCT
ENST00000532957.5:n.1351+1654_1351+1665delinsAGGGGCTGCTCT
NM_000238.3:c.1128+1654_1128+1665delinsAGGGGCTGCTCT , LRG_288t1:c.1128+1654_1128+1665delinsAGGGGCTGCTCT	NP_000229.1:n.1128+1654_1128+1665delinsAGGGGCTGCTCT
NM_001204798.1:c.-134_-123delinsAGGGGCTGCTCT	NP_001191727.1:n.-134_-123delinsAGGGGCTGCTCT
NM_172056.2:c.1128+1654_1128+1665delinsAGGGGCTGCTCT , LRG_288t2:c.1128+1654_1128+1665delinsAGGGGCTGCTCT	NP_742053.1:n.1128+1654_1128+1665delinsAGGGGCTGCTCT
NM_172057.2:c.-134_-123delinsAGGGGCTGCTCT , LRG_288t3:c.-134_-123delinsAGGGGCTGCTCT	NP_742054.1:n.-134_-123delinsAGGGGCTGCTCT
XM_011516185.1:c.828+1654_828+1665delinsAGGGGCTGCTCT	XP_011514487.1:n.828+1654_828+1665delinsAGGGGCTGCTCT
XM_011516186.1:c.1128+1654_1128+1665delinsAGGGGCTGCTCT	XP_011514488.1:n.1128+1654_1128+1665delinsAGGGGCTGCTCT
XM_011516185.2:c.828+1654_828+1665delinsAGGGGCTGCTCT	XP_011514487.1:n.828+1654_828+1665delinsAGGGGCTGCTCT
XM_011516186.3:c.1128+1654_1128+1665delinsAGGGGCTGCTCT	XP_011514488.1:n.1128+1654_1128+1665delinsAGGGGCTGCTCT
XM_017012195.1:c.978+1654_978+1665delinsAGGGGCTGCTCT	XP_016867684.1:n.978+1654_978+1665delinsAGGGGCTGCTCT
XM_017012196.1:c.951+1654_951+1665delinsAGGGGCTGCTCT	XP_016867685.1:n.951+1654_951+1665delinsAGGGGCTGCTCT
NM_000238.4:c.1128+1654_1128+1665delinsAGGGGCTGCTCT MANE Select	NP_000229.1:n.1128+1654_1128+1665delinsAGGGGCTGCTCT
NM_001204798.2:c.-134_-123delinsAGGGGCTGCTCT	NP_001191727.1:n.-134_-123delinsAGGGGCTGCTCT
NM_172057.3:c.-134_-123delinsAGGGGCTGCTCT	NP_742054.1:n.-134_-123delinsAGGGGCTGCTCT