Canonical Allele Identifier: CA2685603606

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150950150-C-CGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950150_150950151insGGGGGGGG , CM000669.2:g.150950150_150950151insGGGGGGGG	GRCh38
NC_000007.13:g.150647238_150647239insGGGGGGGG , CM000669.1:g.150647238_150647239insGGGGGGGG	GRCh37
NC_000007.12:g.150278171_150278172insGGGGGGGG	NCBI36
NG_008916.1:g.32776_32777insCCCCCCCC , LRG_288:g.32776_32777insCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1713_1714insCCCCCCCC
ENST00000684241.1:n.3231+17_3231+18insCCCCCCCC
ENST00000262186.10:c.2398+17_2398+18insCCCCCCCC MANE Select	ENSP00000262186.5:n.2398+17_2398+18insCCCCCCCC
ENST00000330883.9:c.1378+17_1378+18insCCCCCCCC	ENSP00000328531.4:n.1378+17_1378+18insCCCCCCCC
ENST00000262186.9:c.2398+17_2398+18insCCCCCCCC	ENSP00000262186.5:n.2398+17_2398+18insCCCCCCCC
ENST00000330883.8:c.1378+17_1378+18insCCCCCCCC	ENSP00000328531.4:n.1378+17_1378+18insCCCCCCCC
ENST00000430723.4:c.2067_2068insCCCCCCCC	ENSP00000387657.4:p.Gly690ProfsTer20
ENST00000461280.1:n.1702_1703insCCCCCCCC
ENST00000473610.5:n.2047_2048insCCCCCCCC
ENST00000532957.5:n.2638_2639insCCCCCCCC
NM_000238.3:c.2398+17_2398+18insCCCCCCCC , LRG_288t1:c.2398+17_2398+18insCCCCCCCC	NP_000229.1:n.2398+17_2398+18insCCCCCCCC
NM_001204798.1:c.1395_1396insCCCCCCCC	NP_001191727.1:p.Gly466ProfsTer20
NM_172056.2:c.2415_2416insCCCCCCCC , LRG_288t2:c.2415_2416insCCCCCCCC	NP_742053.1:p.Gly806ProfsTer20
NM_172057.2:c.1378+17_1378+18insCCCCCCCC , LRG_288t3:c.1378+17_1378+18insCCCCCCCC	NP_742054.1:n.1378+17_1378+18insCCCCCCCC
XM_011516185.1:c.2098+17_2098+18insCCCCCCCC	XP_011514487.1:n.2098+17_2098+18insCCCCCCCC
XM_011516186.1:c.2398+17_2398+18insCCCCCCCC	XP_011514488.1:n.2398+17_2398+18insCCCCCCCC
XM_011516185.2:c.2098+17_2098+18insCCCCCCCC	XP_011514487.1:n.2098+17_2098+18insCCCCCCCC
XM_011516186.3:c.2398+17_2398+18insCCCCCCCC	XP_011514488.1:n.2398+17_2398+18insCCCCCCCC
XM_017012195.1:c.2248+17_2248+18insCCCCCCCC	XP_016867684.1:n.2248+17_2248+18insCCCCCCCC
XM_017012196.1:c.2221+17_2221+18insCCCCCCCC	XP_016867685.1:n.2221+17_2221+18insCCCCCCCC
NM_000238.4:c.2398+17_2398+18insCCCCCCCC MANE Select	NP_000229.1:n.2398+17_2398+18insCCCCCCCC
NM_001204798.2:c.1395_1396insCCCCCCCC	NP_001191727.1:p.Gly466ProfsTer20
NM_172057.3:c.1378+17_1378+18insCCCCCCCC	NP_742054.1:n.1378+17_1378+18insCCCCCCCC