Canonical Allele Identifier: CA1752434405

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951082_150951083delinsTG , CM000669.2:g.150951082_150951083delinsTG	GRCh38
NC_000007.13:g.150648170_150648171delinsTG , CM000669.1:g.150648170_150648171delinsTG	GRCh37
NC_000007.12:g.150279103_150279104delinsTG	NCBI36
NG_008916.1:g.31844_31845delinsCA , LRG_288:g.31844_31845delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1281_1282delinsCA
ENST00000683359.1:n.107_108delinsCA
ENST00000684241.1:n.2816_2817delinsCA
ENST00000262186.10:c.1983_1984delinsCA MANE Select	ENSP00000262186.5:p.Ala661=
ENST00000330883.9:c.963_964delinsCA	ENSP00000328531.4:p.Ala321=
ENST00000262186.9:c.1983_1984delinsCA	ENSP00000262186.5:p.Ala661=
ENST00000330883.8:c.963_964delinsCA	ENSP00000328531.4:p.Ala321=
ENST00000430723.4:c.1635_1636delinsCA	ENSP00000387657.4:p.Ala545=
ENST00000461280.1:n.1270_1271delinsCA
ENST00000473610.5:n.1615_1616delinsCA
ENST00000532957.5:n.2206_2207delinsCA
NM_000238.3:c.1983_1984delinsCA , LRG_288t1:c.1983_1984delinsCA	NP_000229.1:p.Ala661=
NM_001204798.1:c.963_964delinsCA	NP_001191727.1:p.Ala321=
NM_172056.2:c.1983_1984delinsCA , LRG_288t2:c.1983_1984delinsCA	NP_742053.1:p.Ala661=
NM_172057.2:c.963_964delinsCA , LRG_288t3:c.963_964delinsCA	NP_742054.1:p.Ala321=
XM_011516185.1:c.1683_1684delinsCA	XP_011514487.1:p.Ala561=
XM_011516186.1:c.1983_1984delinsCA	XP_011514488.1:p.Ala661=
XM_011516185.2:c.1683_1684delinsCA	XP_011514487.1:p.Ala561=
XM_011516186.3:c.1983_1984delinsCA	XP_011514488.1:p.Ala661=
XM_017012195.1:c.1833_1834delinsCA	XP_016867684.1:p.Ala611=
XM_017012196.1:c.1806_1807delinsCA	XP_016867685.1:p.Ala602=
NM_000238.4:c.1983_1984delinsCA MANE Select	NP_000229.1:p.Ala661=
NM_001204798.2:c.963_964delinsCA	NP_001191727.1:p.Ala321=
NM_172057.3:c.963_964delinsCA	NP_742054.1:p.Ala321=