Canonical Allele Identifier: CA2695208796

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947448_150947449del , CM000669.2:g.150947448_150947449del	GRCh38
NC_000007.13:g.150644536_150644537del , CM000669.1:g.150644536_150644537del	GRCh37
NC_000007.12:g.150275469_150275470del	NCBI36
NG_008916.1:g.35479_35480del , LRG_288:g.35479_35480del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3865_3866del
ENST00000262186.10:c.3032_3033del MANE Select	ENSP00000262186.5:p.Glu1011AlafsTer?
ENST00000330883.9:c.2012_2013del	ENSP00000328531.4:p.Glu671AlafsTer?
ENST00000262186.9:c.3032_3033del	ENSP00000262186.5:p.Glu1011AlafsTer?
ENST00000330883.8:c.2012_2013del	ENSP00000328531.4:p.Glu671AlafsTer?
NM_000238.3:c.3032_3033del , LRG_288t1:c.3032_3033del	NP_000229.1:p.Glu1011AlafsTer?
NM_172057.2:c.2012_2013del , LRG_288t3:c.2012_2013del	NP_742054.1:p.Glu671AlafsTer?
XM_011516185.1:c.2732_2733del	XP_011514487.1:p.Glu911AlafsTer?
XM_011516186.1:c.*112_*113del	XP_011514488.1:n.*112_*113del
XM_011516185.2:c.2732_2733del	XP_011514487.1:p.Glu911AlafsTer?
XM_011516186.3:c.*112_*113del	XP_011514488.1:n.*112_*113del
XM_017012195.1:c.2882_2883del	XP_016867684.1:p.Glu961AlafsTer?
XM_017012196.1:c.2855_2856del	XP_016867685.1:p.Glu952AlafsTer?
NM_000238.4:c.3032_3033del MANE Select	NP_000229.1:p.Glu1011AlafsTer?
NM_172057.3:c.2012_2013del	NP_742054.1:p.Glu671AlafsTer?