Canonical Allele Identifier: CA2685602068

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150950147-T-TGGGGGGGGGGGGGGGGGGGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950148_150950149insGGGGGGGGGGGGGGGGGGGGCG , CM000669.2:g.150950148_150950149insGGGGGGGGGGGGGGGGGGGGCG	GRCh38
NC_000007.13:g.150647236_150647237insGGGGGGGGGGGGGGGGGGGGCG , CM000669.1:g.150647236_150647237insGGGGGGGGGGGGGGGGGGGGCG	GRCh37
NC_000007.12:g.150278169_150278170insGGGGGGGGGGGGGGGGGGGGCG	NCBI36
NG_008916.1:g.32779_32780insGCCCCCCCCCCCCCCCCCCCCC , LRG_288:g.32779_32780insGCCCCCCCCCCCCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1716_1717insGCCCCCCCCCCCCCCCCCCCCC
ENST00000684241.1:n.3231+20_3231+21insGCCCCCCCCCCCCCCCCCCCCC
ENST00000262186.10:c.2398+20_2398+21insGCCCCCCCCCCCCCCCCCCCCC MANE Select	ENSP00000262186.5:n.2398+20_2398+21insGCCCCCCCCCCCCCCCCCCCCC
ENST00000330883.9:c.1378+20_1378+21insGCCCCCCCCCCCCCCCCCCCCC	ENSP00000328531.4:n.1378+20_1378+21insGCCCCCCCCCCCCCCCCCCCCC
ENST00000262186.9:c.2398+20_2398+21insGCCCCCCCCCCCCCCCCCCCCC	ENSP00000262186.5:n.2398+20_2398+21insGCCCCCCCCCCCCCCCCCCCCC
ENST00000330883.8:c.1378+20_1378+21insGCCCCCCCCCCCCCCCCCCCCC	ENSP00000328531.4:n.1378+20_1378+21insGCCCCCCCCCCCCCCCCCCCCC
ENST00000430723.4:c.2070_2071insGCCCCCCCCCCCCCCCCCCCCC	ENSP00000387657.4:p.Thr691AlafsTer?
ENST00000461280.1:n.1705_1706insGCCCCCCCCCCCCCCCCCCCCC
ENST00000473610.5:n.2050_2051insGCCCCCCCCCCCCCCCCCCCCC
ENST00000532957.5:n.2641_2642insGCCCCCCCCCCCCCCCCCCCCC
NM_000238.3:c.2398+20_2398+21insGCCCCCCCCCCCCCCCCCCCCC , LRG_288t1:c.2398+20_2398+21insGCCCCCCCCCCCCCCCCCCCCC	NP_000229.1:n.2398+20_2398+21insGCCCCCCCCCCCCCCCCCCCCC
NM_001204798.1:c.1398_1399insGCCCCCCCCCCCCCCCCCCCCC	NP_001191727.1:p.Thr467AlafsTer?
NM_172056.2:c.2418_2419insGCCCCCCCCCCCCCCCCCCCCC , LRG_288t2:c.2418_2419insGCCCCCCCCCCCCCCCCCCCCC	NP_742053.1:p.Thr807AlafsTer?
NM_172057.2:c.1378+20_1378+21insGCCCCCCCCCCCCCCCCCCCCC , LRG_288t3:c.1378+20_1378+21insGCCCCCCCCCCCCCCCCCCCCC	NP_742054.1:n.1378+20_1378+21insGCCCCCCCCCCCCCCCCCCCCC
XM_011516185.1:c.2098+20_2098+21insGCCCCCCCCCCCCCCCCCCCCC	XP_011514487.1:n.2098+20_2098+21insGCCCCCCCCCCCCCCCCCCCCC
XM_011516186.1:c.2398+20_2398+21insGCCCCCCCCCCCCCCCCCCCCC	XP_011514488.1:n.2398+20_2398+21insGCCCCCCCCCCCCCCCCCCCCC
XM_011516185.2:c.2098+20_2098+21insGCCCCCCCCCCCCCCCCCCCCC	XP_011514487.1:n.2098+20_2098+21insGCCCCCCCCCCCCCCCCCCCCC
XM_011516186.3:c.2398+20_2398+21insGCCCCCCCCCCCCCCCCCCCCC	XP_011514488.1:n.2398+20_2398+21insGCCCCCCCCCCCCCCCCCCCCC
XM_017012195.1:c.2248+20_2248+21insGCCCCCCCCCCCCCCCCCCCCC	XP_016867684.1:n.2248+20_2248+21insGCCCCCCCCCCCCCCCCCCCCC
XM_017012196.1:c.2221+20_2221+21insGCCCCCCCCCCCCCCCCCCCCC	XP_016867685.1:n.2221+20_2221+21insGCCCCCCCCCCCCCCCCCCCCC
NM_000238.4:c.2398+20_2398+21insGCCCCCCCCCCCCCCCCCCCCC MANE Select	NP_000229.1:n.2398+20_2398+21insGCCCCCCCCCCCCCCCCCCCCC
NM_001204798.2:c.1398_1399insGCCCCCCCCCCCCCCCCCCCCC	NP_001191727.1:p.Thr467AlafsTer?
NM_172057.3:c.1378+20_1378+21insGCCCCCCCCCCCCCCCCCCCCC	NP_742054.1:n.1378+20_1378+21insGCCCCCCCCCCCCCCCCCCCCC