Canonical Allele Identifier: CA2685602024

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150950147-T-TGGGGGGGGGGGGGGCGGGGGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950148_150950149insGGGGGGGGGGGGGCGGGGGGGGGGGGGG , CM000669.2:g.150950148_150950149insGGGGGGGGGGGGGCGGGGGGGGGGGGGG	GRCh38
NC_000007.13:g.150647236_150647237insGGGGGGGGGGGGGCGGGGGGGGGGGGGG , CM000669.1:g.150647236_150647237insGGGGGGGGGGGGGCGGGGGGGGGGGGGG	GRCh37
NC_000007.12:g.150278169_150278170insGGGGGGGGGGGGGCGGGGGGGGGGGGGG	NCBI36
NG_008916.1:g.32779_32780insCCCCCCCCCCCCCGCCCCCCCCCCCCCC , LRG_288:g.32779_32780insCCCCCCCCCCCCCGCCCCCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1716_1717insCCCCCCCCCCCCCGCCCCCCCCCCCCCC
ENST00000684241.1:n.3231+20_3231+21insCCCCCCCCCCCCCGCCCCCCCCCCCCCC
ENST00000262186.10:c.2398+20_2398+21insCCCCCCCCCCCCCGCCCCCCCCCCCCCC MANE Select	ENSP00000262186.5:n.2398+20_2398+21insCCCCCCCCCCCCCGCCCCCCCCC...
ENST00000330883.9:c.1378+20_1378+21insCCCCCCCCCCCCCGCCCCCCCCCCCCCC	ENSP00000328531.4:n.1378+20_1378+21insCCCCCCCCCCCCCGCCCCCCCCC...
ENST00000262186.9:c.2398+20_2398+21insCCCCCCCCCCCCCGCCCCCCCCCCCCCC	ENSP00000262186.5:n.2398+20_2398+21insCCCCCCCCCCCCCGCCCCCCCCC...
ENST00000330883.8:c.1378+20_1378+21insCCCCCCCCCCCCCGCCCCCCCCCCCCCC	ENSP00000328531.4:n.1378+20_1378+21insCCCCCCCCCCCCCGCCCCCCCCC...
ENST00000430723.4:c.2070_2071insCCCCCCCCCCCCCGCCCCCCCCCCCCCC	ENSP00000387657.4:p.Thr691ProfsTer?
ENST00000461280.1:n.1705_1706insCCCCCCCCCCCCCGCCCCCCCCCCCCCC
ENST00000473610.5:n.2050_2051insCCCCCCCCCCCCCGCCCCCCCCCCCCCC
ENST00000532957.5:n.2641_2642insCCCCCCCCCCCCCGCCCCCCCCCCCCCC
NM_000238.3:c.2398+20_2398+21insCCCCCCCCCCCCCGCCCCCCCCCCCCCC , LRG_288t1:c.2398+20_2398+21insCCCCCCCCCCCCCGCCCCCCCCCCCCCC	NP_000229.1:n.2398+20_2398+21insCCCCCCCCCCCCCGCCCCCCCCCCCCCC
NM_001204798.1:c.1398_1399insCCCCCCCCCCCCCGCCCCCCCCCCCCCC	NP_001191727.1:p.Thr467ProfsTer?
NM_172056.2:c.2418_2419insCCCCCCCCCCCCCGCCCCCCCCCCCCCC , LRG_288t2:c.2418_2419insCCCCCCCCCCCCCGCCCCCCCCCCCCCC	NP_742053.1:p.Thr807ProfsTer?
NM_172057.2:c.1378+20_1378+21insCCCCCCCCCCCCCGCCCCCCCCCCCCCC , LRG_288t3:c.1378+20_1378+21insCCCCCCCCCCCCCGCCCCCCCCCCCCCC	NP_742054.1:n.1378+20_1378+21insCCCCCCCCCCCCCGCCCCCCCCCCCCCC
XM_011516185.1:c.2098+20_2098+21insCCCCCCCCCCCCCGCCCCCCCCCCCCCC	XP_011514487.1:n.2098+20_2098+21insCCCCCCCCCCCCCGCCCCCCCCCCCC...
XM_011516186.1:c.2398+20_2398+21insCCCCCCCCCCCCCGCCCCCCCCCCCCCC	XP_011514488.1:n.2398+20_2398+21insCCCCCCCCCCCCCGCCCCCCCCCCCC...
XM_011516185.2:c.2098+20_2098+21insCCCCCCCCCCCCCGCCCCCCCCCCCCCC	XP_011514487.1:n.2098+20_2098+21insCCCCCCCCCCCCCGCCCCCCCCCCCC...
XM_011516186.3:c.2398+20_2398+21insCCCCCCCCCCCCCGCCCCCCCCCCCCCC	XP_011514488.1:n.2398+20_2398+21insCCCCCCCCCCCCCGCCCCCCCCCCCC...
XM_017012195.1:c.2248+20_2248+21insCCCCCCCCCCCCCGCCCCCCCCCCCCCC	XP_016867684.1:n.2248+20_2248+21insCCCCCCCCCCCCCGCCCCCCCCCCCC...
XM_017012196.1:c.2221+20_2221+21insCCCCCCCCCCCCCGCCCCCCCCCCCCCC	XP_016867685.1:n.2221+20_2221+21insCCCCCCCCCCCCCGCCCCCCCCCCCC...
NM_000238.4:c.2398+20_2398+21insCCCCCCCCCCCCCGCCCCCCCCCCCCCC MANE Select	NP_000229.1:n.2398+20_2398+21insCCCCCCCCCCCCCGCCCCCCCCCCCCCC
NM_001204798.2:c.1398_1399insCCCCCCCCCCCCCGCCCCCCCCCCCCCC	NP_001191727.1:p.Thr467ProfsTer?
NM_172057.3:c.1378+20_1378+21insCCCCCCCCCCCCCGCCCCCCCCCCCCCC	NP_742054.1:n.1378+20_1378+21insCCCCCCCCCCCCCGCCCCCCCCCCCCCC