Canonical Allele Identifier: CA2685603916

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150955563-C-CAGTCTA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150955564_150955565insGTCTAA , CM000669.2:g.150955564_150955565insGTCTAA	GRCh38
NC_000007.13:g.150652652_150652653insGTCTAA , CM000669.1:g.150652652_150652653insGTCTAA	GRCh37
NC_000007.12:g.150283585_150283586insGTCTAA	NCBI36
NG_008916.1:g.27363_27364insTAGACT , LRG_288:g.27363_27364insTAGACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.258_259insTAGACT
ENST00000684241.1:n.1961+1727_1961+1728insTAGACT
ENST00000262186.10:c.1128+1727_1128+1728insTAGACT MANE Select	ENSP00000262186.5:n.1128+1727_1128+1728insTAGACT
ENST00000330883.9:c.-61_-60insTAGACT	ENSP00000328531.4:n.-61_-60insTAGACT
ENST00000262186.9:c.1128+1727_1128+1728insTAGACT	ENSP00000262186.5:n.1128+1727_1128+1728insTAGACT
ENST00000330883.8:c.-61_-60insTAGACT	ENSP00000328531.4:n.-61_-60insTAGACT
ENST00000430723.4:c.780+1727_780+1728insTAGACT	ENSP00000387657.4:n.780+1727_780+1728insTAGACT
ENST00000461280.1:n.247_248insTAGACT
ENST00000473610.5:n.265_266insTAGACT
ENST00000532957.5:n.1351+1727_1351+1728insTAGACT
NM_000238.3:c.1128+1727_1128+1728insTAGACT , LRG_288t1:c.1128+1727_1128+1728insTAGACT	NP_000229.1:n.1128+1727_1128+1728insTAGACT
NM_001204798.1:c.-61_-60insTAGACT	NP_001191727.1:n.-61_-60insTAGACT
NM_172056.2:c.1128+1727_1128+1728insTAGACT , LRG_288t2:c.1128+1727_1128+1728insTAGACT	NP_742053.1:n.1128+1727_1128+1728insTAGACT
NM_172057.2:c.-61_-60insTAGACT , LRG_288t3:c.-61_-60insTAGACT	NP_742054.1:n.-61_-60insTAGACT
XM_011516185.1:c.828+1727_828+1728insTAGACT	XP_011514487.1:n.828+1727_828+1728insTAGACT
XM_011516186.1:c.1128+1727_1128+1728insTAGACT	XP_011514488.1:n.1128+1727_1128+1728insTAGACT
XM_011516185.2:c.828+1727_828+1728insTAGACT	XP_011514487.1:n.828+1727_828+1728insTAGACT
XM_011516186.3:c.1128+1727_1128+1728insTAGACT	XP_011514488.1:n.1128+1727_1128+1728insTAGACT
XM_017012195.1:c.978+1727_978+1728insTAGACT	XP_016867684.1:n.978+1727_978+1728insTAGACT
XM_017012196.1:c.951+1727_951+1728insTAGACT	XP_016867685.1:n.951+1727_951+1728insTAGACT
NM_000238.4:c.1128+1727_1128+1728insTAGACT MANE Select	NP_000229.1:n.1128+1727_1128+1728insTAGACT
NM_001204798.2:c.-61_-60insTAGACT	NP_001191727.1:n.-61_-60insTAGACT
NM_172057.3:c.-61_-60insTAGACT	NP_742054.1:n.-61_-60insTAGACT