Canonical Allele Identifier: CA2685601814

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150950143-C-CCGGGGGGGGGGGGGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950144_150950145insGGGGGGGGGGGGGGGGGGGGGC , CM000669.2:g.150950144_150950145insGGGGGGGGGGGGGGGGGGGGGC	GRCh38
NC_000007.13:g.150647232_150647233insGGGGGGGGGGGGGGGGGGGGGC , CM000669.1:g.150647232_150647233insGGGGGGGGGGGGGGGGGGGGGC	GRCh37
NC_000007.12:g.150278165_150278166insGGGGGGGGGGGGGGGGGGGGGC	NCBI36
NG_008916.1:g.32783_32784insCCCCCCCCCCCCCCCCCCCCCG , LRG_288:g.32783_32784insCCCCCCCCCCCCCCCCCCCCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1720_1721insCCCCCCCCCCCCCCCCCCCCCG
ENST00000684241.1:n.3231+24_3231+25insCCCCCCCCCCCCCCCCCCCCCG
ENST00000262186.10:c.2398+24_2398+25insCCCCCCCCCCCCCCCCCCCCCG MANE Select	ENSP00000262186.5:n.2398+24_2398+25insCCCCCCCCCCCCCCCCCCCCCG
ENST00000330883.9:c.1378+24_1378+25insCCCCCCCCCCCCCCCCCCCCCG	ENSP00000328531.4:n.1378+24_1378+25insCCCCCCCCCCCCCCCCCCCCCG
ENST00000262186.9:c.2398+24_2398+25insCCCCCCCCCCCCCCCCCCCCCG	ENSP00000262186.5:n.2398+24_2398+25insCCCCCCCCCCCCCCCCCCCCCG
ENST00000330883.8:c.1378+24_1378+25insCCCCCCCCCCCCCCCCCCCCCG	ENSP00000328531.4:n.1378+24_1378+25insCCCCCCCCCCCCCCCCCCCCCG
ENST00000430723.4:c.2074_2075insCCCCCCCCCCCCCCCCCCCCCG	ENSP00000387657.4:p.Gly692AlafsTer?
ENST00000461280.1:n.1709_1710insCCCCCCCCCCCCCCCCCCCCCG
ENST00000473610.5:n.2054_2055insCCCCCCCCCCCCCCCCCCCCCG
ENST00000532957.5:n.2645_2646insCCCCCCCCCCCCCCCCCCCCCG
NM_000238.3:c.2398+24_2398+25insCCCCCCCCCCCCCCCCCCCCCG , LRG_288t1:c.2398+24_2398+25insCCCCCCCCCCCCCCCCCCCCCG	NP_000229.1:n.2398+24_2398+25insCCCCCCCCCCCCCCCCCCCCCG
NM_001204798.1:c.1402_1403insCCCCCCCCCCCCCCCCCCCCCG	NP_001191727.1:p.Gly468AlafsTer?
NM_172056.2:c.2422_2423insCCCCCCCCCCCCCCCCCCCCCG , LRG_288t2:c.2422_2423insCCCCCCCCCCCCCCCCCCCCCG	NP_742053.1:p.Gly808AlafsTer?
NM_172057.2:c.1378+24_1378+25insCCCCCCCCCCCCCCCCCCCCCG , LRG_288t3:c.1378+24_1378+25insCCCCCCCCCCCCCCCCCCCCCG	NP_742054.1:n.1378+24_1378+25insCCCCCCCCCCCCCCCCCCCCCG
XM_011516185.1:c.2098+24_2098+25insCCCCCCCCCCCCCCCCCCCCCG	XP_011514487.1:n.2098+24_2098+25insCCCCCCCCCCCCCCCCCCCCCG
XM_011516186.1:c.2398+24_2398+25insCCCCCCCCCCCCCCCCCCCCCG	XP_011514488.1:n.2398+24_2398+25insCCCCCCCCCCCCCCCCCCCCCG
XM_011516185.2:c.2098+24_2098+25insCCCCCCCCCCCCCCCCCCCCCG	XP_011514487.1:n.2098+24_2098+25insCCCCCCCCCCCCCCCCCCCCCG
XM_011516186.3:c.2398+24_2398+25insCCCCCCCCCCCCCCCCCCCCCG	XP_011514488.1:n.2398+24_2398+25insCCCCCCCCCCCCCCCCCCCCCG
XM_017012195.1:c.2248+24_2248+25insCCCCCCCCCCCCCCCCCCCCCG	XP_016867684.1:n.2248+24_2248+25insCCCCCCCCCCCCCCCCCCCCCG
XM_017012196.1:c.2221+24_2221+25insCCCCCCCCCCCCCCCCCCCCCG	XP_016867685.1:n.2221+24_2221+25insCCCCCCCCCCCCCCCCCCCCCG
NM_000238.4:c.2398+24_2398+25insCCCCCCCCCCCCCCCCCCCCCG MANE Select	NP_000229.1:n.2398+24_2398+25insCCCCCCCCCCCCCCCCCCCCCG
NM_001204798.2:c.1402_1403insCCCCCCCCCCCCCCCCCCCCCG	NP_001191727.1:p.Gly468AlafsTer?
NM_172057.3:c.1378+24_1378+25insCCCCCCCCCCCCCCCCCCCCCG	NP_742054.1:n.1378+24_1378+25insCCCCCCCCCCCCCCCCCCCCCG