Canonical Allele Identifier: CA2695208738

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952653_150952654delinsC , CM000669.2:g.150952653_150952654delinsC	GRCh38
NC_000007.13:g.150649741_150649742delinsC , CM000669.1:g.150649741_150649742delinsC	GRCh37
NC_000007.12:g.150280674_150280675delinsC	NCBI36
NG_008916.1:g.30273_30274delinsG , LRG_288:g.30273_30274delinsG

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.626_627delinsG
ENST00000684116.1:n.221_222delinsG
ENST00000684241.1:n.2161_2162delinsG
ENST00000262186.10:c.1328_1329delinsG MANE Select	ENSP00000262186.5:p.Thr443ArgfsTer?
ENST00000330883.9:c.308_309delinsG	ENSP00000328531.4:p.Thr103ArgfsTer?
ENST00000262186.9:c.1328_1329delinsG	ENSP00000262186.5:p.Thr443ArgfsTer?
ENST00000330883.8:c.308_309delinsG	ENSP00000328531.4:p.Thr103ArgfsTer?
ENST00000430723.4:c.980_981delinsG	ENSP00000387657.4:p.Thr327ArgfsTer?
ENST00000461280.1:n.615_616delinsG
ENST00000473610.5:n.633_634delinsG
ENST00000532957.5:n.1551_1552delinsG
NM_000238.3:c.1328_1329delinsG , LRG_288t1:c.1328_1329delinsG	NP_000229.1:p.Thr443ArgfsTer?
NM_001204798.1:c.308_309delinsG	NP_001191727.1:p.Thr103ArgfsTer?
NM_172056.2:c.1328_1329delinsG , LRG_288t2:c.1328_1329delinsG	NP_742053.1:p.Thr443ArgfsTer?
NM_172057.2:c.308_309delinsG , LRG_288t3:c.308_309delinsG	NP_742054.1:p.Thr103ArgfsTer?
XM_011516185.1:c.1028_1029delinsG	XP_011514487.1:p.Thr343ArgfsTer?
XM_011516186.1:c.1328_1329delinsG	XP_011514488.1:p.Thr443ArgfsTer?
XM_011516185.2:c.1028_1029delinsG	XP_011514487.1:p.Thr343ArgfsTer?
XM_011516186.3:c.1328_1329delinsG	XP_011514488.1:p.Thr443ArgfsTer?
XM_017012195.1:c.1178_1179delinsG	XP_016867684.1:p.Thr393ArgfsTer?
XM_017012196.1:c.1151_1152delinsG	XP_016867685.1:p.Thr384ArgfsTer?
NM_000238.4:c.1328_1329delinsG MANE Select	NP_000229.1:p.Thr443ArgfsTer?
NM_001204798.2:c.308_309delinsG	NP_001191727.1:p.Thr103ArgfsTer?
NM_172057.3:c.308_309delinsG	NP_742054.1:p.Thr103ArgfsTer?