Canonical Allele Identifier: CA2695208781

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947367delinsCCGGGGCCGCCGACC , CM000669.2:g.150947367delinsCCGGGGCCGCCGACC	GRCh38
NC_000007.13:g.150644455delinsCCGGGGCCGCCGACC , CM000669.1:g.150644455delinsCCGGGGCCGCCGACC	GRCh37
NC_000007.12:g.150275388delinsCCGGGGCCGCCGACC	NCBI36
NG_008916.1:g.35560delinsGGTCGGCGGCCCCGG , LRG_288:g.35560delinsGGTCGGCGGCCCCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3946delinsGGTCGGCGGCCCCGG
ENST00000262186.10:c.3113delinsGGTCGGCGGCCCCGG MANE Select	ENSP00000262186.5:p.Val1038GlyfsTer24
ENST00000330883.9:c.2093delinsGGTCGGCGGCCCCGG	ENSP00000328531.4:p.Val698GlyfsTer24
ENST00000262186.9:c.3113delinsGGTCGGCGGCCCCGG	ENSP00000262186.5:p.Val1038GlyfsTer24
ENST00000330883.8:c.2093delinsGGTCGGCGGCCCCGG	ENSP00000328531.4:p.Val698GlyfsTer24
NM_000238.3:c.3113delinsGGTCGGCGGCCCCGG , LRG_288t1:c.3113delinsGGTCGGCGGCCCCGG	NP_000229.1:p.Val1038GlyfsTer24
NM_172057.2:c.2093delinsGGTCGGCGGCCCCGG , LRG_288t3:c.2093delinsGGTCGGCGGCCCCGG	NP_742054.1:p.Val698GlyfsTer24
XM_011516185.1:c.2813delinsGGTCGGCGGCCCCGG	XP_011514487.1:p.Val938GlyfsTer24
XM_011516185.2:c.2813delinsGGTCGGCGGCCCCGG	XP_011514487.1:p.Val938GlyfsTer24
XM_017012195.1:c.2963delinsGGTCGGCGGCCCCGG	XP_016867684.1:p.Val988GlyfsTer24
XM_017012196.1:c.2936delinsGGTCGGCGGCCCCGG	XP_016867685.1:p.Val979GlyfsTer24
NM_000238.4:c.3113delinsGGTCGGCGGCCCCGG MANE Select	NP_000229.1:p.Val1038GlyfsTer24
NM_172057.3:c.2093delinsGGTCGGCGGCCCCGG	NP_742054.1:p.Val698GlyfsTer24