Canonical Allele Identifier: CA1752414337

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150955139_150955146delinsCATTTTGA , CM000669.2:g.150955139_150955146delinsCATTTTGA	GRCh38
NC_000007.13:g.150652227_150652234delinsCATTTTGA , CM000669.1:g.150652227_150652234delinsCATTTTGA	GRCh37
NC_000007.12:g.150283160_150283167delinsCATTTTGA	NCBI36
NG_008916.1:g.27781_27788delinsTCAAAATG , LRG_288:g.27781_27788delinsTCAAAATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.426+250_426+257delinsTCAAAATG
ENST00000684241.1:n.1961+2145_1961+2152delinsTCAAAATG
ENST00000262186.10:c.1128+2145_1128+2152delinsTCAAAATG MANE Select	ENSP00000262186.5:n.1128+2145_1128+2152delinsTCAAAATG
ENST00000330883.9:c.108+250_108+257delinsTCAAAATG	ENSP00000328531.4:n.108+250_108+257delinsTCAAAATG
ENST00000262186.9:c.1128+2145_1128+2152delinsTCAAAATG	ENSP00000262186.5:n.1128+2145_1128+2152delinsTCAAAATG
ENST00000330883.8:c.108+250_108+257delinsTCAAAATG	ENSP00000328531.4:n.108+250_108+257delinsTCAAAATG
ENST00000430723.4:c.780+2145_780+2152delinsTCAAAATG	ENSP00000387657.4:n.780+2145_780+2152delinsTCAAAATG
ENST00000461280.1:n.415+250_415+257delinsTCAAAATG
ENST00000473610.5:n.433+250_433+257delinsTCAAAATG
ENST00000532957.5:n.1351+2145_1351+2152delinsTCAAAATG
NM_000238.3:c.1128+2145_1128+2152delinsTCAAAATG , LRG_288t1:c.1128+2145_1128+2152delinsTCAAAATG	NP_000229.1:n.1128+2145_1128+2152delinsTCAAAATG
NM_001204798.1:c.108+250_108+257delinsTCAAAATG	NP_001191727.1:n.108+250_108+257delinsTCAAAATG
NM_172056.2:c.1128+2145_1128+2152delinsTCAAAATG , LRG_288t2:c.1128+2145_1128+2152delinsTCAAAATG	NP_742053.1:n.1128+2145_1128+2152delinsTCAAAATG
NM_172057.2:c.108+250_108+257delinsTCAAAATG , LRG_288t3:c.108+250_108+257delinsTCAAAATG	NP_742054.1:n.108+250_108+257delinsTCAAAATG
XM_011516185.1:c.828+2145_828+2152delinsTCAAAATG	XP_011514487.1:n.828+2145_828+2152delinsTCAAAATG
XM_011516186.1:c.1128+2145_1128+2152delinsTCAAAATG	XP_011514488.1:n.1128+2145_1128+2152delinsTCAAAATG
XM_011516185.2:c.828+2145_828+2152delinsTCAAAATG	XP_011514487.1:n.828+2145_828+2152delinsTCAAAATG
XM_011516186.3:c.1128+2145_1128+2152delinsTCAAAATG	XP_011514488.1:n.1128+2145_1128+2152delinsTCAAAATG
XM_017012195.1:c.978+2145_978+2152delinsTCAAAATG	XP_016867684.1:n.978+2145_978+2152delinsTCAAAATG
XM_017012196.1:c.951+2145_951+2152delinsTCAAAATG	XP_016867685.1:n.951+2145_951+2152delinsTCAAAATG
NM_000238.4:c.1128+2145_1128+2152delinsTCAAAATG MANE Select	NP_000229.1:n.1128+2145_1128+2152delinsTCAAAATG
NM_001204798.2:c.108+250_108+257delinsTCAAAATG	NP_001191727.1:n.108+250_108+257delinsTCAAAATG
NM_172057.3:c.108+250_108+257delinsTCAAAATG	NP_742054.1:n.108+250_108+257delinsTCAAAATG