Canonical Allele Identifier: CA2685601822

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150950144-C-CCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950144_150950145insCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG , CM000669.2:g.150950144_150950145insCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	GRCh38
NC_000007.13:g.150647232_150647233insCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG , CM000669.1:g.150647232_150647233insCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	GRCh37
NC_000007.12:g.150278165_150278166insCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	NCBI36
NG_008916.1:g.32782_32783insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG , LRG_288:g.32782_32783insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1719_1720insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG
ENST00000684241.1:n.3231+23_3231+24insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG
ENST00000262186.10:c.2398+23_2398+24insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG MANE Select	ENSP00000262186.5:n.2398+23_2398+24insCCC...
ENST00000330883.9:c.1378+23_1378+24insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG	ENSP00000328531.4:n.1378+23_1378+24insCCC...
ENST00000262186.9:c.2398+23_2398+24insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG	ENSP00000262186.5:n.2398+23_2398+24insCCC...
ENST00000330883.8:c.1378+23_1378+24insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG	ENSP00000328531.4:n.1378+23_1378+24insCCC...
ENST00000430723.4:c.2073_2074insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG	ENSP00000387657.4:p.Gly692ProfsTer26
ENST00000461280.1:n.1708_1709insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG
ENST00000473610.5:n.2053_2054insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG
ENST00000532957.5:n.2644_2645insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG
NM_000238.3:c.2398+23_2398+24insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG , LRG_288t1:c.2398+23_2398+24insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG	NP_000229.1:n.2398+23_2398+24insCCCCCCCCC...
NM_001204798.1:c.1401_1402insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG	NP_001191727.1:p.Gly468ProfsTer26
NM_172056.2:c.2421_2422insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG , LRG_288t2:c.2421_2422insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG	NP_742053.1:p.Gly808ProfsTer26
NM_172057.2:c.1378+23_1378+24insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG , LRG_288t3:c.1378+23_1378+24insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG	NP_742054.1:n.1378+23_1378+24insCCCCCCCCC...
XM_011516185.1:c.2098+23_2098+24insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG	XP_011514487.1:n.2098+23_2098+24insCCCCCC...
XM_011516186.1:c.2398+23_2398+24insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG	XP_011514488.1:n.2398+23_2398+24insCCCCCC...
XM_011516185.2:c.2098+23_2098+24insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG	XP_011514487.1:n.2098+23_2098+24insCCCCCC...
XM_011516186.3:c.2398+23_2398+24insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG	XP_011514488.1:n.2398+23_2398+24insCCCCCC...
XM_017012195.1:c.2248+23_2248+24insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG	XP_016867684.1:n.2248+23_2248+24insCCCCCC...
XM_017012196.1:c.2221+23_2221+24insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG	XP_016867685.1:n.2221+23_2221+24insCCCCCC...
NM_000238.4:c.2398+23_2398+24insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG MANE Select	NP_000229.1:n.2398+23_2398+24insCCCCCCCCC...
NM_001204798.2:c.1401_1402insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG	NP_001191727.1:p.Gly468ProfsTer26
NM_172057.3:c.1378+23_1378+24insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCG	NP_742054.1:n.1378+23_1378+24insCCCCCCCCC...