Canonical Allele Identifier: CA1752461246

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974551_150974567delinsGGCCCCCGCCCGCGTCA , CM000669.2:g.150974551_150974567delinsGGCCCCCGCCCGCGTCA	GRCh38
NC_000007.13:g.150671639_150671655delinsGGCCCCCGCCCGCGTCA , CM000669.1:g.150671639_150671655delinsGGCCCCCGCCCGCGTCA	GRCh37
NC_000007.12:g.150302572_150302588delinsGGCCCCCGCCCGCGTCA	NCBI36
NG_008916.1:g.8360_8376delinsTGACGCGGGCGGGGGCC , LRG_288:g.8360_8376delinsTGACGCGGGCGGGGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.307+144_307+160delinsTGACGCGGGCGGGGGCC MANE Select	ENSP00000262186.5:n.307+144_307+160delinsTGACGCGGGCGGGGGCC
ENST00000262186.9:c.307+144_307+160delinsTGACGCGGGCGGGGGCC	ENSP00000262186.5:n.307+144_307+160delinsTGACGCGGGCGGGGGCC
ENST00000430723.4:c.130+144_130+160delinsTGACGCGGGCGGGGGCC	ENSP00000387657.4:n.130+144_130+160delinsTGACGCGGGCGGGGGCC
ENST00000532957.5:n.530+144_530+160delinsTGACGCGGGCGGGGGCC
NM_000238.3:c.307+144_307+160delinsTGACGCGGGCGGGGGCC , LRG_288t1:c.307+144_307+160delinsTGACGCGGGCGGGGGCC	NP_000229.1:n.307+144_307+160delinsTGACGCGGGCGGGGGCC
NM_172056.2:c.307+144_307+160delinsTGACGCGGGCGGGGGCC , LRG_288t2:c.307+144_307+160delinsTGACGCGGGCGGGGGCC	NP_742053.1:n.307+144_307+160delinsTGACGCGGGCGGGGGCC
XM_011516186.1:c.307+144_307+160delinsTGACGCGGGCGGGGGCC	XP_011514488.1:n.307+144_307+160delinsTGACGCGGGCGGGGGCC
XM_011516186.3:c.307+144_307+160delinsTGACGCGGGCGGGGGCC	XP_011514488.1:n.307+144_307+160delinsTGACGCGGGCGGGGGCC
XM_017012196.1:c.130+144_130+160delinsTGACGCGGGCGGGGGCC	XP_016867685.1:n.130+144_130+160delinsTGACGCGGGCGGGGGCC
NM_000238.4:c.307+144_307+160delinsTGACGCGGGCGGGGGCC MANE Select	NP_000229.1:n.307+144_307+160delinsTGACGCGGGCGGGGGCC