Canonical Allele Identifier: CA1752432739

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949923_150949927delinsCTGTT , CM000669.2:g.150949923_150949927delinsCTGTT	GRCh38
NC_000007.13:g.150647011_150647015delinsCTGTT , CM000669.1:g.150647011_150647015delinsCTGTT	GRCh37
NC_000007.12:g.150277944_150277948delinsCTGTT	NCBI36
NG_008916.1:g.33000_33004delinsAACAG , LRG_288:g.33000_33004delinsAACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1937_1941delinsAACAG
ENST00000684241.1:n.3231+241_3231+245delinsAACAG
ENST00000262186.10:c.2398+241_2398+245delinsAACAG MANE Select	ENSP00000262186.5:n.2398+241_2398+245delinsAACAG
ENST00000330883.9:c.1378+241_1378+245delinsAACAG	ENSP00000328531.4:n.1378+241_1378+245delinsAACAG
ENST00000262186.9:c.2398+241_2398+245delinsAACAG	ENSP00000262186.5:n.2398+241_2398+245delinsAACAG
ENST00000330883.8:c.1378+241_1378+245delinsAACAG	ENSP00000328531.4:n.1378+241_1378+245delinsAACAG
ENST00000430723.4:c.2291_2295delinsAACAG	ENSP00000387657.4:p.Lys764=
ENST00000461280.1:n.1926_1930delinsAACAG
ENST00000473610.5:n.2271_2275delinsAACAG
ENST00000532957.5:n.2862_2866delinsAACAG
NM_000238.3:c.2398+241_2398+245delinsAACAG , LRG_288t1:c.2398+241_2398+245delinsAACAG	NP_000229.1:n.2398+241_2398+245delinsAACAG
NM_001204798.1:c.1619_1623delinsAACAG	NP_001191727.1:p.Lys540=
NM_172056.2:c.2639_2643delinsAACAG , LRG_288t2:c.2639_2643delinsAACAG	NP_742053.1:p.Lys880=
NM_172057.2:c.1378+241_1378+245delinsAACAG , LRG_288t3:c.1378+241_1378+245delinsAACAG	NP_742054.1:n.1378+241_1378+245delinsAACAG
XM_011516185.1:c.2098+241_2098+245delinsAACAG	XP_011514487.1:n.2098+241_2098+245delinsAACAG
XM_011516186.1:c.2398+241_2398+245delinsAACAG	XP_011514488.1:n.2398+241_2398+245delinsAACAG
XM_011516185.2:c.2098+241_2098+245delinsAACAG	XP_011514487.1:n.2098+241_2098+245delinsAACAG
XM_011516186.3:c.2398+241_2398+245delinsAACAG	XP_011514488.1:n.2398+241_2398+245delinsAACAG
XM_017012195.1:c.2248+241_2248+245delinsAACAG	XP_016867684.1:n.2248+241_2248+245delinsAACAG
XM_017012196.1:c.2221+241_2221+245delinsAACAG	XP_016867685.1:n.2221+241_2221+245delinsAACAG
NM_000238.4:c.2398+241_2398+245delinsAACAG MANE Select	NP_000229.1:n.2398+241_2398+245delinsAACAG
NM_001204798.2:c.1619_1623delinsAACAG	NP_001191727.1:p.Lys540=
NM_172057.3:c.1378+241_1378+245delinsAACAG	NP_742054.1:n.1378+241_1378+245delinsAACAG