Canonical Allele Identifier: CA1752412364

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952842_150952843delinsCA , CM000669.2:g.150952842_150952843delinsCA	GRCh38
NC_000007.13:g.150649930_150649931delinsCA , CM000669.1:g.150649930_150649931delinsCA	GRCh37
NC_000007.12:g.150280863_150280864delinsCA	NCBI36
NG_008916.1:g.30084_30085delinsTG , LRG_288:g.30084_30085delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.437_438delinsTG
ENST00000684116.1:n.32_33delinsTG
ENST00000684241.1:n.1972_1973delinsTG
ENST00000262186.10:c.1139_1140delinsTG MANE Select	ENSP00000262186.5:p.Leu380=
ENST00000330883.9:c.119_120delinsTG	ENSP00000328531.4:p.Leu40=
ENST00000262186.9:c.1139_1140delinsTG	ENSP00000262186.5:p.Leu380=
ENST00000330883.8:c.119_120delinsTG	ENSP00000328531.4:p.Leu40=
ENST00000430723.4:c.791_792delinsTG	ENSP00000387657.4:p.Leu264=
ENST00000461280.1:n.426_427delinsTG
ENST00000473610.5:n.444_445delinsTG
ENST00000532957.5:n.1362_1363delinsTG
NM_000238.3:c.1139_1140delinsTG , LRG_288t1:c.1139_1140delinsTG	NP_000229.1:p.Leu380=
NM_001204798.1:c.119_120delinsTG	NP_001191727.1:p.Leu40=
NM_172056.2:c.1139_1140delinsTG , LRG_288t2:c.1139_1140delinsTG	NP_742053.1:p.Leu380=
NM_172057.2:c.119_120delinsTG , LRG_288t3:c.119_120delinsTG	NP_742054.1:p.Leu40=
XM_011516185.1:c.839_840delinsTG	XP_011514487.1:p.Leu280=
XM_011516186.1:c.1139_1140delinsTG	XP_011514488.1:p.Leu380=
XM_011516185.2:c.839_840delinsTG	XP_011514487.1:p.Leu280=
XM_011516186.3:c.1139_1140delinsTG	XP_011514488.1:p.Leu380=
XM_017012195.1:c.989_990delinsTG	XP_016867684.1:p.Leu330=
XM_017012196.1:c.962_963delinsTG	XP_016867685.1:p.Leu321=
NM_000238.4:c.1139_1140delinsTG MANE Select	NP_000229.1:p.Leu380=
NM_001204798.2:c.119_120delinsTG	NP_001191727.1:p.Leu40=
NM_172057.3:c.119_120delinsTG	NP_742054.1:p.Leu40=