Canonical Allele Identifier: CA1752452967

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150970088_150970092delinsTGAGA , CM000669.2:g.150970088_150970092delinsTGAGA	GRCh38
NC_000007.13:g.150667176_150667180delinsTGAGA , CM000669.1:g.150667176_150667180delinsTGAGA	GRCh37
NC_000007.12:g.150298109_150298113delinsTGAGA	NCBI36
NG_008916.1:g.12835_12839delinsTCTCA , LRG_288:g.12835_12839delinsTCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.307+4619_307+4623delinsTCTCA MANE Select	ENSP00000262186.5:n.307+4619_307+4623delinsTCTCA
ENST00000262186.9:c.307+4619_307+4623delinsTCTCA	ENSP00000262186.5:n.307+4619_307+4623delinsTCTCA
ENST00000430723.4:c.130+4619_130+4623delinsTCTCA	ENSP00000387657.4:n.130+4619_130+4623delinsTCTCA
ENST00000532957.5:n.530+4619_530+4623delinsTCTCA
NM_000238.3:c.307+4619_307+4623delinsTCTCA , LRG_288t1:c.307+4619_307+4623delinsTCTCA	NP_000229.1:n.307+4619_307+4623delinsTCTCA
NM_172056.2:c.307+4619_307+4623delinsTCTCA , LRG_288t2:c.307+4619_307+4623delinsTCTCA	NP_742053.1:n.307+4619_307+4623delinsTCTCA
XM_011516185.1:c.7+4278_7+4282delinsTCTCA	XP_011514487.1:n.7+4278_7+4282delinsTCTCA
XM_011516186.1:c.307+4619_307+4623delinsTCTCA	XP_011514488.1:n.307+4619_307+4623delinsTCTCA
XM_011516185.2:c.7+4278_7+4282delinsTCTCA	XP_011514487.1:n.7+4278_7+4282delinsTCTCA
XM_011516186.3:c.307+4619_307+4623delinsTCTCA	XP_011514488.1:n.307+4619_307+4623delinsTCTCA
XM_017012196.1:c.130+4619_130+4623delinsTCTCA	XP_016867685.1:n.130+4619_130+4623delinsTCTCA
NM_000238.4:c.307+4619_307+4623delinsTCTCA MANE Select	NP_000229.1:n.307+4619_307+4623delinsTCTCA