Canonical Allele Identifier: CA1752431289

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948452_150948458delinsGTGCGCC , CM000669.2:g.150948452_150948458delinsGTGCGCC	GRCh38
NC_000007.13:g.150645540_150645546delinsGTGCGCC , CM000669.1:g.150645540_150645546delinsGTGCGCC	GRCh37
NC_000007.12:g.150276473_150276479delinsGTGCGCC	NCBI36
NG_008916.1:g.34469_34475delinsGGCGCAC , LRG_288:g.34469_34475delinsGGCGCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3511_3517delinsGGCGCAC
ENST00000262186.10:c.2678_2684delinsGGCGCAC MANE Select	ENSP00000262186.5:p.Arg893=
ENST00000330883.9:c.1658_1664delinsGGCGCAC	ENSP00000328531.4:p.Arg553=
ENST00000262186.9:c.2678_2684delinsGGCGCAC	ENSP00000262186.5:p.Arg893=
ENST00000330883.8:c.1658_1664delinsGGCGCAC	ENSP00000328531.4:p.Arg553=
NM_000238.3:c.2678_2684delinsGGCGCAC , LRG_288t1:c.2678_2684delinsGGCGCAC	NP_000229.1:p.Arg893=
NM_172057.2:c.1658_1664delinsGGCGCAC , LRG_288t3:c.1658_1664delinsGGCGCAC	NP_742054.1:p.Arg553=
XM_011516185.1:c.2378_2384delinsGGCGCAC	XP_011514487.1:p.Arg793=
XM_011516186.1:c.2678_2684delinsGGCGCAC	XP_011514488.1:p.Arg893=
XM_011516185.2:c.2378_2384delinsGGCGCAC	XP_011514487.1:p.Arg793=
XM_011516186.3:c.2678_2684delinsGGCGCAC	XP_011514488.1:p.Arg893=
XM_017012195.1:c.2528_2534delinsGGCGCAC	XP_016867684.1:p.Arg843=
XM_017012196.1:c.2501_2507delinsGGCGCAC	XP_016867685.1:p.Arg834=
NM_000238.4:c.2678_2684delinsGGCGCAC MANE Select	NP_000229.1:p.Arg893=
NM_172057.3:c.1658_1664delinsGGCGCAC	NP_742054.1:p.Arg553=