Canonical Allele Identifier: CA2685602041

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150950147-T-TGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950148_150950149insGGGGGGGGG , CM000669.2:g.150950148_150950149insGGGGGGGGG	GRCh38
NC_000007.13:g.150647236_150647237insGGGGGGGGG , CM000669.1:g.150647236_150647237insGGGGGGGGG	GRCh37
NC_000007.12:g.150278169_150278170insGGGGGGGGG	NCBI36
NG_008916.1:g.32779_32780insCCCCCCCCC , LRG_288:g.32779_32780insCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1716_1717insCCCCCCCCC
ENST00000684241.1:n.3231+20_3231+21insCCCCCCCCC
ENST00000262186.10:c.2398+20_2398+21insCCCCCCCCC MANE Select	ENSP00000262186.5:n.2398+20_2398+21insCCCCCCCCC
ENST00000330883.9:c.1378+20_1378+21insCCCCCCCCC	ENSP00000328531.4:n.1378+20_1378+21insCCCCCCCCC
ENST00000262186.9:c.2398+20_2398+21insCCCCCCCCC	ENSP00000262186.5:n.2398+20_2398+21insCCCCCCCCC
ENST00000330883.8:c.1378+20_1378+21insCCCCCCCCC	ENSP00000328531.4:n.1378+20_1378+21insCCCCCCCCC
ENST00000430723.4:c.2070_2071insCCCCCCCCC	ENSP00000387657.4:p.Gly690_Thr691insProProPro
ENST00000461280.1:n.1705_1706insCCCCCCCCC
ENST00000473610.5:n.2050_2051insCCCCCCCCC
ENST00000532957.5:n.2641_2642insCCCCCCCCC
NM_000238.3:c.2398+20_2398+21insCCCCCCCCC , LRG_288t1:c.2398+20_2398+21insCCCCCCCCC	NP_000229.1:n.2398+20_2398+21insCCCCCCCCC
NM_001204798.1:c.1398_1399insCCCCCCCCC	NP_001191727.1:p.Gly466_Thr467insProProPro
NM_172056.2:c.2418_2419insCCCCCCCCC , LRG_288t2:c.2418_2419insCCCCCCCCC	NP_742053.1:p.Gly806_Thr807insProProPro
NM_172057.2:c.1378+20_1378+21insCCCCCCCCC , LRG_288t3:c.1378+20_1378+21insCCCCCCCCC	NP_742054.1:n.1378+20_1378+21insCCCCCCCCC
XM_011516185.1:c.2098+20_2098+21insCCCCCCCCC	XP_011514487.1:n.2098+20_2098+21insCCCCCCCCC
XM_011516186.1:c.2398+20_2398+21insCCCCCCCCC	XP_011514488.1:n.2398+20_2398+21insCCCCCCCCC
XM_011516185.2:c.2098+20_2098+21insCCCCCCCCC	XP_011514487.1:n.2098+20_2098+21insCCCCCCCCC
XM_011516186.3:c.2398+20_2398+21insCCCCCCCCC	XP_011514488.1:n.2398+20_2398+21insCCCCCCCCC
XM_017012195.1:c.2248+20_2248+21insCCCCCCCCC	XP_016867684.1:n.2248+20_2248+21insCCCCCCCCC
XM_017012196.1:c.2221+20_2221+21insCCCCCCCCC	XP_016867685.1:n.2221+20_2221+21insCCCCCCCCC
NM_000238.4:c.2398+20_2398+21insCCCCCCCCC MANE Select	NP_000229.1:n.2398+20_2398+21insCCCCCCCCC
NM_001204798.2:c.1398_1399insCCCCCCCCC	NP_001191727.1:p.Gly466_Thr467insProProPro
NM_172057.3:c.1378+20_1378+21insCCCCCCCCC	NP_742054.1:n.1378+20_1378+21insCCCCCCCCC