Canonical Allele Identifier: CA1752461370

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974611_150974619delinsGCCCCCACA , CM000669.2:g.150974611_150974619delinsGCCCCCACA	GRCh38
NC_000007.13:g.150671699_150671707delinsGCCCCCACA , CM000669.1:g.150671699_150671707delinsGCCCCCACA	GRCh37
NC_000007.12:g.150302632_150302640delinsGCCCCCACA	NCBI36
NG_008916.1:g.8308_8316delinsTGTGGGGGC , LRG_288:g.8308_8316delinsTGTGGGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.307+92_307+100delinsTGTGGGGGC MANE Select	ENSP00000262186.5:n.307+92_307+100delinsTGTGGGGGC
ENST00000262186.9:c.307+92_307+100delinsTGTGGGGGC	ENSP00000262186.5:n.307+92_307+100delinsTGTGGGGGC
ENST00000430723.4:c.130+92_130+100delinsTGTGGGGGC	ENSP00000387657.4:n.130+92_130+100delinsTGTGGGGGC
ENST00000532957.5:n.530+92_530+100delinsTGTGGGGGC
NM_000238.3:c.307+92_307+100delinsTGTGGGGGC , LRG_288t1:c.307+92_307+100delinsTGTGGGGGC	NP_000229.1:n.307+92_307+100delinsTGTGGGGGC
NM_172056.2:c.307+92_307+100delinsTGTGGGGGC , LRG_288t2:c.307+92_307+100delinsTGTGGGGGC	NP_742053.1:n.307+92_307+100delinsTGTGGGGGC
XM_011516186.1:c.307+92_307+100delinsTGTGGGGGC	XP_011514488.1:n.307+92_307+100delinsTGTGGGGGC
XM_011516186.3:c.307+92_307+100delinsTGTGGGGGC	XP_011514488.1:n.307+92_307+100delinsTGTGGGGGC
XM_017012196.1:c.130+92_130+100delinsTGTGGGGGC	XP_016867685.1:n.130+92_130+100delinsTGTGGGGGC
NM_000238.4:c.307+92_307+100delinsTGTGGGGGC MANE Select	NP_000229.1:n.307+92_307+100delinsTGTGGGGGC