Canonical Allele Identifier: CA1752428556

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947370_150947381delinsTCGCCCCGGGGC , CM000669.2:g.150947370_150947381delinsTCGCCCCGGGGC	GRCh38
NC_000007.13:g.150644458_150644469delinsTCGCCCCGGGGC , CM000669.1:g.150644458_150644469delinsTCGCCCCGGGGC	GRCh37
NC_000007.12:g.150275391_150275402delinsTCGCCCCGGGGC	NCBI36
NG_008916.1:g.35546_35557delinsGCCCCGGGGCGA , LRG_288:g.35546_35557delinsGCCCCGGGGCGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3932_3943delinsGCCCCGGGGCGA
ENST00000262186.10:c.3099_3110delinsGCCCCGGGGCGA MANE Select	ENSP00000262186.5:p.Arg1033=
ENST00000330883.9:c.2079_2090delinsGCCCCGGGGCGA	ENSP00000328531.4:p.Arg693=
ENST00000262186.9:c.3099_3110delinsGCCCCGGGGCGA	ENSP00000262186.5:p.Arg1033=
ENST00000330883.8:c.2079_2090delinsGCCCCGGGGCGA	ENSP00000328531.4:p.Arg693=
NM_000238.3:c.3099_3110delinsGCCCCGGGGCGA , LRG_288t1:c.3099_3110delinsGCCCCGGGGCGA	NP_000229.1:p.Arg1033=
NM_172057.2:c.2079_2090delinsGCCCCGGGGCGA , LRG_288t3:c.2079_2090delinsGCCCCGGGGCGA	NP_742054.1:p.Arg693=
XM_011516185.1:c.2799_2810delinsGCCCCGGGGCGA	XP_011514487.1:p.Arg933=
XM_011516185.2:c.2799_2810delinsGCCCCGGGGCGA	XP_011514487.1:p.Arg933=
XM_017012195.1:c.2949_2960delinsGCCCCGGGGCGA	XP_016867684.1:p.Arg983=
XM_017012196.1:c.2922_2933delinsGCCCCGGGGCGA	XP_016867685.1:p.Arg974=
NM_000238.4:c.3099_3110delinsGCCCCGGGGCGA MANE Select	NP_000229.1:p.Arg1033=
NM_172057.3:c.2079_2090delinsGCCCCGGGGCGA	NP_742054.1:p.Arg693=