Canonical Allele Identifier: CA1752414870

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150955535_150955536delinsCT , CM000669.2:g.150955535_150955536delinsCT	GRCh38
NC_000007.13:g.150652623_150652624delinsCT , CM000669.1:g.150652623_150652624delinsCT	GRCh37
NC_000007.12:g.150283556_150283557delinsCT	NCBI36
NG_008916.1:g.27391_27392delinsAG , LRG_288:g.27391_27392delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.286_287delinsAG
ENST00000684241.1:n.1961+1755_1961+1756delinsAG
ENST00000262186.10:c.1128+1755_1128+1756delinsAG MANE Select	ENSP00000262186.5:n.1128+1755_1128+1756delinsAG
ENST00000330883.9:c.-33_-32delinsAG	ENSP00000328531.4:n.-33_-32delinsAG
ENST00000262186.9:c.1128+1755_1128+1756delinsAG	ENSP00000262186.5:n.1128+1755_1128+1756delinsAG
ENST00000330883.8:c.-33_-32delinsAG	ENSP00000328531.4:n.-33_-32delinsAG
ENST00000430723.4:c.780+1755_780+1756delinsAG	ENSP00000387657.4:n.780+1755_780+1756delinsAG
ENST00000461280.1:n.275_276delinsAG
ENST00000473610.5:n.293_294delinsAG
ENST00000532957.5:n.1351+1755_1351+1756delinsAG
NM_000238.3:c.1128+1755_1128+1756delinsAG , LRG_288t1:c.1128+1755_1128+1756delinsAG	NP_000229.1:n.1128+1755_1128+1756delinsAG
NM_001204798.1:c.-33_-32delinsAG	NP_001191727.1:n.-33_-32delinsAG
NM_172056.2:c.1128+1755_1128+1756delinsAG , LRG_288t2:c.1128+1755_1128+1756delinsAG	NP_742053.1:n.1128+1755_1128+1756delinsAG
NM_172057.2:c.-33_-32delinsAG , LRG_288t3:c.-33_-32delinsAG	NP_742054.1:n.-33_-32delinsAG
XM_011516185.1:c.828+1755_828+1756delinsAG	XP_011514487.1:n.828+1755_828+1756delinsAG
XM_011516186.1:c.1128+1755_1128+1756delinsAG	XP_011514488.1:n.1128+1755_1128+1756delinsAG
XM_011516185.2:c.828+1755_828+1756delinsAG	XP_011514487.1:n.828+1755_828+1756delinsAG
XM_011516186.3:c.1128+1755_1128+1756delinsAG	XP_011514488.1:n.1128+1755_1128+1756delinsAG
XM_017012195.1:c.978+1755_978+1756delinsAG	XP_016867684.1:n.978+1755_978+1756delinsAG
XM_017012196.1:c.951+1755_951+1756delinsAG	XP_016867685.1:n.951+1755_951+1756delinsAG
NM_000238.4:c.1128+1755_1128+1756delinsAG MANE Select	NP_000229.1:n.1128+1755_1128+1756delinsAG
NM_001204798.2:c.-33_-32delinsAG	NP_001191727.1:n.-33_-32delinsAG
NM_172057.3:c.-33_-32delinsAG	NP_742054.1:n.-33_-32delinsAG