Canonical Allele Identifier: CA2685603582

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150950148-G-GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950148_150950149insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGT , CM000669.2:g.150950148_150950149insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGT	GRCh38
NC_000007.13:g.150647236_150647237insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGT , CM000669.1:g.150647236_150647237insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGT	GRCh37
NC_000007.12:g.150278169_150278170insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGT	NCBI36
NG_008916.1:g.32778_32779insACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC , LRG_288:g.32778_32779insACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1715_1716insACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
ENST00000684241.1:n.3231+19_3231+20insACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
ENST00000262186.10:c.2398+19_2398+20insACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC MANE Select	ENSP00000262186.5:n.2398+19_2398+20insACCCCCCCCCCCCCCCCCCCCCC...
ENST00000330883.9:c.1378+19_1378+20insACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	ENSP00000328531.4:n.1378+19_1378+20insACCCCCCCCCCCCCCCCCCCCCC...
ENST00000262186.9:c.2398+19_2398+20insACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	ENSP00000262186.5:n.2398+19_2398+20insACCCCCCCCCCCCCCCCCCCCCC...
ENST00000330883.8:c.1378+19_1378+20insACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	ENSP00000328531.4:n.1378+19_1378+20insACCCCCCCCCCCCCCCCCCCCCC...
ENST00000430723.4:c.2069_2070insACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	ENSP00000387657.4:p.Thr691ProfsTer?
ENST00000461280.1:n.1704_1705insACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
ENST00000473610.5:n.2049_2050insACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
ENST00000532957.5:n.2640_2641insACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
NM_000238.3:c.2398+19_2398+20insACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC , LRG_288t1:c.2398+19_2398+20insACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	NP_000229.1:n.2398+19_2398+20insACCCCCCCCCCCCCCCCCCCCCCCCCCCC...
NM_001204798.1:c.1397_1398insACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	NP_001191727.1:p.Thr467ProfsTer?
NM_172056.2:c.2417_2418insACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC , LRG_288t2:c.2417_2418insACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	NP_742053.1:p.Thr807ProfsTer?
NM_172057.2:c.1378+19_1378+20insACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC , LRG_288t3:c.1378+19_1378+20insACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	NP_742054.1:n.1378+19_1378+20insACCCCCCCCCCCCCCCCCCCCCCCCCCCC...
XM_011516185.1:c.2098+19_2098+20insACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	XP_011514487.1:n.2098+19_2098+20insACCCCCCCCCCCCCCCCCCCCCCCCC...
XM_011516186.1:c.2398+19_2398+20insACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	XP_011514488.1:n.2398+19_2398+20insACCCCCCCCCCCCCCCCCCCCCCCCC...
XM_011516185.2:c.2098+19_2098+20insACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	XP_011514487.1:n.2098+19_2098+20insACCCCCCCCCCCCCCCCCCCCCCCCC...
XM_011516186.3:c.2398+19_2398+20insACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	XP_011514488.1:n.2398+19_2398+20insACCCCCCCCCCCCCCCCCCCCCCCCC...
XM_017012195.1:c.2248+19_2248+20insACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	XP_016867684.1:n.2248+19_2248+20insACCCCCCCCCCCCCCCCCCCCCCCCC...
XM_017012196.1:c.2221+19_2221+20insACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	XP_016867685.1:n.2221+19_2221+20insACCCCCCCCCCCCCCCCCCCCCCCCC...
NM_000238.4:c.2398+19_2398+20insACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC MANE Select	NP_000229.1:n.2398+19_2398+20insACCCCCCCCCCCCCCCCCCCCCCCCCCCC...
NM_001204798.2:c.1397_1398insACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	NP_001191727.1:p.Thr467ProfsTer?
NM_172057.3:c.1378+19_1378+20insACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	NP_742054.1:n.1378+19_1378+20insACCCCCCCCCCCCCCCCCCCCCCCCCCCC...