Canonical Allele Identifier: CA1752461076

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974432_150974433delinsGA , CM000669.2:g.150974432_150974433delinsGA	GRCh38
NC_000007.13:g.150671520_150671521delinsGA , CM000669.1:g.150671520_150671521delinsGA	GRCh37
NC_000007.12:g.150302453_150302454delinsGA	NCBI36
NG_008916.1:g.8494_8495delinsTC , LRG_288:g.8494_8495delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.307+278_307+279delinsTC MANE Select	ENSP00000262186.5:n.307+278_307+279delinsTC
ENST00000262186.9:c.307+278_307+279delinsTC	ENSP00000262186.5:n.307+278_307+279delinsTC
ENST00000430723.4:c.130+278_130+279delinsTC	ENSP00000387657.4:n.130+278_130+279delinsTC
ENST00000532957.5:n.530+278_530+279delinsTC
NM_000238.3:c.307+278_307+279delinsTC , LRG_288t1:c.307+278_307+279delinsTC	NP_000229.1:n.307+278_307+279delinsTC
NM_172056.2:c.307+278_307+279delinsTC , LRG_288t2:c.307+278_307+279delinsTC	NP_742053.1:n.307+278_307+279delinsTC
XM_011516186.1:c.307+278_307+279delinsTC	XP_011514488.1:n.307+278_307+279delinsTC
XM_011516185.2:c.-57_-56delinsTC	XP_011514487.1:n.-57_-56delinsTC
XM_011516186.3:c.307+278_307+279delinsTC	XP_011514488.1:n.307+278_307+279delinsTC
XM_017012196.1:c.130+278_130+279delinsTC	XP_016867685.1:n.130+278_130+279delinsTC
NM_000238.4:c.307+278_307+279delinsTC MANE Select	NP_000229.1:n.307+278_307+279delinsTC