Canonical Allele Identifier: CA1752410538

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951742_150951745delinsACAG , CM000669.2:g.150951742_150951745delinsACAG	GRCh38
NC_000007.13:g.150648830_150648833delinsACAG , CM000669.1:g.150648830_150648833delinsACAG	GRCh37
NC_000007.12:g.150279763_150279766delinsACAG	NCBI36
NG_008916.1:g.31182_31185delinsCTGT , LRG_288:g.31182_31185delinsCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.946_949delinsCTGT
ENST00000684116.1:n.541_544delinsCTGT
ENST00000684241.1:n.2481_2484delinsCTGT
ENST00000262186.10:c.1648_1651delinsCTGT MANE Select	ENSP00000262186.5:p.Leu550=
ENST00000330883.9:c.628_631delinsCTGT	ENSP00000328531.4:p.Leu210=
ENST00000262186.9:c.1648_1651delinsCTGT	ENSP00000262186.5:p.Leu550=
ENST00000330883.8:c.628_631delinsCTGT	ENSP00000328531.4:p.Leu210=
ENST00000430723.4:c.1300_1303delinsCTGT	ENSP00000387657.4:p.Leu434=
ENST00000461280.1:n.935_938delinsCTGT
ENST00000473610.5:n.953_956delinsCTGT
ENST00000532957.5:n.1871_1874delinsCTGT
NM_000238.3:c.1648_1651delinsCTGT , LRG_288t1:c.1648_1651delinsCTGT	NP_000229.1:p.Leu550=
NM_001204798.1:c.628_631delinsCTGT	NP_001191727.1:p.Leu210=
NM_172056.2:c.1648_1651delinsCTGT , LRG_288t2:c.1648_1651delinsCTGT	NP_742053.1:p.Leu550=
NM_172057.2:c.628_631delinsCTGT , LRG_288t3:c.628_631delinsCTGT	NP_742054.1:p.Leu210=
XM_011516185.1:c.1348_1351delinsCTGT	XP_011514487.1:p.Leu450=
XM_011516186.1:c.1648_1651delinsCTGT	XP_011514488.1:p.Leu550=
XM_011516185.2:c.1348_1351delinsCTGT	XP_011514487.1:p.Leu450=
XM_011516186.3:c.1648_1651delinsCTGT	XP_011514488.1:p.Leu550=
XM_017012195.1:c.1498_1501delinsCTGT	XP_016867684.1:p.Leu500=
XM_017012196.1:c.1471_1474delinsCTGT	XP_016867685.1:p.Leu491=
NM_000238.4:c.1648_1651delinsCTGT MANE Select	NP_000229.1:p.Leu550=
NM_001204798.2:c.628_631delinsCTGT	NP_001191727.1:p.Leu210=
NM_172057.3:c.628_631delinsCTGT	NP_742054.1:p.Leu210=