Canonical Allele Identifier: CA2685602901

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150955378-GGACC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150955380_150955383del , CM000669.2:g.150955380_150955383del	GRCh38
NC_000007.13:g.150652468_150652471del , CM000669.1:g.150652468_150652471del	GRCh37
NC_000007.12:g.150283401_150283404del	NCBI36
NG_008916.1:g.27545_27548del , LRG_288:g.27545_27548del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.426+14_426+17del
ENST00000684241.1:n.1961+1909_1961+1912del
ENST00000262186.10:c.1128+1909_1128+1912del MANE Select	ENSP00000262186.5:n.1128+1909_1128+1912del
ENST00000330883.9:c.108+14_108+17del	ENSP00000328531.4:n.108+14_108+17del
ENST00000262186.9:c.1128+1909_1128+1912del	ENSP00000262186.5:n.1128+1909_1128+1912del
ENST00000330883.8:c.108+14_108+17del	ENSP00000328531.4:n.108+14_108+17del
ENST00000430723.4:c.780+1909_780+1912del	ENSP00000387657.4:n.780+1909_780+1912del
ENST00000461280.1:n.415+14_415+17del
ENST00000473610.5:n.433+14_433+17del
ENST00000532957.5:n.1351+1909_1351+1912del
NM_000238.3:c.1128+1909_1128+1912del , LRG_288t1:c.1128+1909_1128+1912del	NP_000229.1:n.1128+1909_1128+1912del
NM_001204798.1:c.108+14_108+17del	NP_001191727.1:n.108+14_108+17del
NM_172056.2:c.1128+1909_1128+1912del , LRG_288t2:c.1128+1909_1128+1912del	NP_742053.1:n.1128+1909_1128+1912del
NM_172057.2:c.108+14_108+17del , LRG_288t3:c.108+14_108+17del	NP_742054.1:n.108+14_108+17del
XM_011516185.1:c.828+1909_828+1912del	XP_011514487.1:n.828+1909_828+1912del
XM_011516186.1:c.1128+1909_1128+1912del	XP_011514488.1:n.1128+1909_1128+1912del
XM_011516185.2:c.828+1909_828+1912del	XP_011514487.1:n.828+1909_828+1912del
XM_011516186.3:c.1128+1909_1128+1912del	XP_011514488.1:n.1128+1909_1128+1912del
XM_017012195.1:c.978+1909_978+1912del	XP_016867684.1:n.978+1909_978+1912del
XM_017012196.1:c.951+1909_951+1912del	XP_016867685.1:n.951+1909_951+1912del
NM_000238.4:c.1128+1909_1128+1912del MANE Select	NP_000229.1:n.1128+1909_1128+1912del
NM_001204798.2:c.108+14_108+17del	NP_001191727.1:n.108+14_108+17del
NM_172057.3:c.108+14_108+17del	NP_742054.1:n.108+14_108+17del