Canonical Allele Identifier: CA1752431432

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948492_150948502delinsTGAAGCCACCC , CM000669.2:g.150948492_150948502delinsTGAAGCCACCC	GRCh38
NC_000007.13:g.150645580_150645590delinsTGAAGCCACCC , CM000669.1:g.150645580_150645590delinsTGAAGCCACCC	GRCh37
NC_000007.12:g.150276513_150276523delinsTGAAGCCACCC	NCBI36
NG_008916.1:g.34425_34435delinsGGGTGGCTTCA , LRG_288:g.34425_34435delinsGGGTGGCTTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3467_3477delinsGGGTGGCTTCA
ENST00000262186.10:c.2634_2644delinsGGGTGGCTTCA MANE Select	ENSP00000262186.5:p.Glu878=
ENST00000330883.9:c.1614_1624delinsGGGTGGCTTCA	ENSP00000328531.4:p.Glu538=
ENST00000262186.9:c.2634_2644delinsGGGTGGCTTCA	ENSP00000262186.5:p.Glu878=
ENST00000330883.8:c.1614_1624delinsGGGTGGCTTCA	ENSP00000328531.4:p.Glu538=
NM_000238.3:c.2634_2644delinsGGGTGGCTTCA , LRG_288t1:c.2634_2644delinsGGGTGGCTTCA	NP_000229.1:p.Glu878=
NM_172057.2:c.1614_1624delinsGGGTGGCTTCA , LRG_288t3:c.1614_1624delinsGGGTGGCTTCA	NP_742054.1:p.Glu538=
XM_011516185.1:c.2334_2344delinsGGGTGGCTTCA	XP_011514487.1:p.Glu778=
XM_011516186.1:c.2634_2644delinsGGGTGGCTTCA	XP_011514488.1:p.Glu878=
XM_011516185.2:c.2334_2344delinsGGGTGGCTTCA	XP_011514487.1:p.Glu778=
XM_011516186.3:c.2634_2644delinsGGGTGGCTTCA	XP_011514488.1:p.Glu878=
XM_017012195.1:c.2484_2494delinsGGGTGGCTTCA	XP_016867684.1:p.Glu828=
XM_017012196.1:c.2457_2467delinsGGGTGGCTTCA	XP_016867685.1:p.Glu819=
NM_000238.4:c.2634_2644delinsGGGTGGCTTCA MANE Select	NP_000229.1:p.Glu878=
NM_172057.3:c.1614_1624delinsGGGTGGCTTCA	NP_742054.1:p.Glu538=