Canonical Allele Identifier: CA1752428508

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947367_150947381delinsACGTCGCCCCGGGGC , CM000669.2:g.150947367_150947381delinsACGTCGCCCCGGGGC	GRCh38
NC_000007.13:g.150644455_150644469delinsACGTCGCCCCGGGGC , CM000669.1:g.150644455_150644469delinsACGTCGCCCCGGGGC	GRCh37
NC_000007.12:g.150275388_150275402delinsACGTCGCCCCGGGGC	NCBI36
NG_008916.1:g.35546_35560delinsGCCCCGGGGCGACGT , LRG_288:g.35546_35560delinsGCCCCGGGGCGACGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3932_3946delinsGCCCCGGGGCGACGT
ENST00000262186.10:c.3099_3113delinsGCCCCGGGGCGACGT MANE Select	ENSP00000262186.5:p.Arg1033=
ENST00000330883.9:c.2079_2093delinsGCCCCGGGGCGACGT	ENSP00000328531.4:p.Arg693=
ENST00000262186.9:c.3099_3113delinsGCCCCGGGGCGACGT	ENSP00000262186.5:p.Arg1033=
ENST00000330883.8:c.2079_2093delinsGCCCCGGGGCGACGT	ENSP00000328531.4:p.Arg693=
NM_000238.3:c.3099_3113delinsGCCCCGGGGCGACGT , LRG_288t1:c.3099_3113delinsGCCCCGGGGCGACGT	NP_000229.1:p.Arg1033=
NM_172057.2:c.2079_2093delinsGCCCCGGGGCGACGT , LRG_288t3:c.2079_2093delinsGCCCCGGGGCGACGT	NP_742054.1:p.Arg693=
XM_011516185.1:c.2799_2813delinsGCCCCGGGGCGACGT	XP_011514487.1:p.Arg933=
XM_011516185.2:c.2799_2813delinsGCCCCGGGGCGACGT	XP_011514487.1:p.Arg933=
XM_017012195.1:c.2949_2963delinsGCCCCGGGGCGACGT	XP_016867684.1:p.Arg983=
XM_017012196.1:c.2922_2936delinsGCCCCGGGGCGACGT	XP_016867685.1:p.Arg974=
NM_000238.4:c.3099_3113delinsGCCCCGGGGCGACGT MANE Select	NP_000229.1:p.Arg1033=
NM_172057.3:c.2079_2093delinsGCCCCGGGGCGACGT	NP_742054.1:p.Arg693=