Canonical Allele Identifier: CA1752417607

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958012_150958015delinsCAGA , CM000669.2:g.150958012_150958015delinsCAGA	GRCh38
NC_000007.13:g.150655100_150655103delinsCAGA , CM000669.1:g.150655100_150655103delinsCAGA	GRCh37
NC_000007.12:g.150286033_150286036delinsCAGA	NCBI36
NG_008916.1:g.24912_24915delinsTCTG , LRG_288:g.24912_24915delinsTCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1749+44_1749+47delinsTCTG
ENST00000262186.10:c.916+44_916+47delinsTCTG MANE Select	ENSP00000262186.5:n.916+44_916+47delinsTCTG
ENST00000262186.9:c.916+44_916+47delinsTCTG	ENSP00000262186.5:n.916+44_916+47delinsTCTG
ENST00000430723.4:c.568+44_568+47delinsTCTG	ENSP00000387657.4:n.568+44_568+47delinsTCTG
ENST00000532957.5:n.1139+44_1139+47delinsTCTG
NM_000238.3:c.916+44_916+47delinsTCTG , LRG_288t1:c.916+44_916+47delinsTCTG	NP_000229.1:n.916+44_916+47delinsTCTG
NM_172056.2:c.916+44_916+47delinsTCTG , LRG_288t2:c.916+44_916+47delinsTCTG	NP_742053.1:n.916+44_916+47delinsTCTG
XM_011516185.1:c.616+44_616+47delinsTCTG	XP_011514487.1:n.616+44_616+47delinsTCTG
XM_011516186.1:c.916+44_916+47delinsTCTG	XP_011514488.1:n.916+44_916+47delinsTCTG
XM_011516185.2:c.616+44_616+47delinsTCTG	XP_011514487.1:n.616+44_616+47delinsTCTG
XM_011516186.3:c.916+44_916+47delinsTCTG	XP_011514488.1:n.916+44_916+47delinsTCTG
XM_017012195.1:c.766+44_766+47delinsTCTG	XP_016867684.1:n.766+44_766+47delinsTCTG
XM_017012196.1:c.739+44_739+47delinsTCTG	XP_016867685.1:n.739+44_739+47delinsTCTG
NM_000238.4:c.916+44_916+47delinsTCTG MANE Select	NP_000229.1:n.916+44_916+47delinsTCTG