Canonical Allele Identifier: CA1752461590

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974670_150974688delinsACCCCGCCCCTGGTCGTGG , CM000669.2:g.150974670_150974688delinsACCCCGCCCCTGGTCGTGG	GRCh38
NC_000007.13:g.150671758_150671776delinsACCCCGCCCCTGGTCGTGG , CM000669.1:g.150671758_150671776delinsACCCCGCCCCTGGTCGTGG	GRCh37
NC_000007.12:g.150302691_150302709delinsACCCCGCCCCTGGTCGTGG	NCBI36
NG_008916.1:g.8239_8257delinsCCACGACCAGGGGCGGGGT , LRG_288:g.8239_8257delinsCCACGACCAGGGGCGGGGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.307+23_307+41delinsCCACGACCAGGGGCGGGGT MANE Select	ENSP00000262186.5:n.307+23_307+41delinsCC...
ENST00000262186.9:c.307+23_307+41delinsCCACGACCAGGGGCGGGGT	ENSP00000262186.5:n.307+23_307+41delinsCC...
ENST00000430723.4:c.130+23_130+41delinsCCACGACCAGGGGCGGGGT	ENSP00000387657.4:n.130+23_130+41delinsCC...
ENST00000532957.5:n.530+23_530+41delinsCCACGACCAGGGGCGGGGT
NM_000238.3:c.307+23_307+41delinsCCACGACCAGGGGCGGGGT , LRG_288t1:c.307+23_307+41delinsCCACGACCAGGGGCGGGGT	NP_000229.1:n.307+23_307+41delinsCCACGACC...
NM_172056.2:c.307+23_307+41delinsCCACGACCAGGGGCGGGGT , LRG_288t2:c.307+23_307+41delinsCCACGACCAGGGGCGGGGT	NP_742053.1:n.307+23_307+41delinsCCACGACC...
XM_011516186.1:c.307+23_307+41delinsCCACGACCAGGGGCGGGGT	XP_011514488.1:n.307+23_307+41delinsCCACG...
XM_011516186.3:c.307+23_307+41delinsCCACGACCAGGGGCGGGGT	XP_011514488.1:n.307+23_307+41delinsCCACG...
XM_017012196.1:c.130+23_130+41delinsCCACGACCAGGGGCGGGGT	XP_016867685.1:n.130+23_130+41delinsCCACG...
NM_000238.4:c.307+23_307+41delinsCCACGACCAGGGGCGGGGT MANE Select	NP_000229.1:n.307+23_307+41delinsCCACGACC...