Canonical Allele Identifier: CA2535313465

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952625_150952627del , CM000669.2:g.150952625_150952627del	GRCh38
NC_000007.13:g.150649713_150649715del , CM000669.1:g.150649713_150649715del	GRCh37
NC_000007.12:g.150280646_150280648del	NCBI36
NG_008916.1:g.30300_30302del , LRG_288:g.30300_30302del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.653_655del
ENST00000684116.1:n.248_250del
ENST00000684241.1:n.2188_2190del
ENST00000262186.10:c.1355_1357del MANE Select	ENSP00000262186.5:p.Leu452_Ala453delinsPr...
ENST00000330883.9:c.335_337del	ENSP00000328531.4:p.Leu112_Ala113delinsPr...
ENST00000262186.9:c.1355_1357del	ENSP00000262186.5:p.Leu452_Ala453delinsPr...
ENST00000330883.8:c.335_337del	ENSP00000328531.4:p.Leu112_Ala113delinsPr...
ENST00000430723.4:c.1007_1009del	ENSP00000387657.4:p.Leu336_Ala337delinsPr...
ENST00000461280.1:n.642_644del
ENST00000473610.5:n.660_662del
ENST00000532957.5:n.1578_1580del
NM_000238.3:c.1355_1357del , LRG_288t1:c.1355_1357del	NP_000229.1:p.Leu452_Ala453delinsPro
NM_001204798.1:c.335_337del	NP_001191727.1:p.Leu112_Ala113delinsPro
NM_172056.2:c.1355_1357del , LRG_288t2:c.1355_1357del	NP_742053.1:p.Leu452_Ala453delinsPro
NM_172057.2:c.335_337del , LRG_288t3:c.335_337del	NP_742054.1:p.Leu112_Ala113delinsPro
XM_011516185.1:c.1055_1057del	XP_011514487.1:p.Leu352_Ala353delinsPro
XM_011516186.1:c.1355_1357del	XP_011514488.1:p.Leu452_Ala453delinsPro
XM_011516185.2:c.1055_1057del	XP_011514487.1:p.Leu352_Ala353delinsPro
XM_011516186.3:c.1355_1357del	XP_011514488.1:p.Leu452_Ala453delinsPro
XM_017012195.1:c.1205_1207del	XP_016867684.1:p.Leu402_Ala403delinsPro
XM_017012196.1:c.1178_1180del	XP_016867685.1:p.Leu393_Ala394delinsPro
NM_000238.4:c.1355_1357del MANE Select	NP_000229.1:p.Leu452_Ala453delinsPro
NM_001204798.2:c.335_337del	NP_001191727.1:p.Leu112_Ala113delinsPro
NM_172057.3:c.335_337del	NP_742054.1:p.Leu112_Ala113delinsPro