Canonical Allele Identifier: CA1752419800

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959584_150959605delinsAGCTGGTGGGGGGGCCCCGGTG , CM000669.2:g.150959584_150959605delinsAGCTGGTGGGGGGGCCCCGGTG	GRCh38
NC_000007.13:g.150656672_150656693delinsAGCTGGTGGGGGGGCCCCGGTG , CM000669.1:g.150656672_150656693delinsAGCTGGTGGGGGGGCCCCGGTG	GRCh37
NC_000007.12:g.150287605_150287626delinsAGCTGGTGGGGGGGCCCCGGTG	NCBI36
NG_008916.1:g.23322_23343delinsCACCGGGGCCCCCCCACCAGCT , LRG_288:g.23322_23343delinsCACCGGGGCCCCCCCACCAGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1272_1293delinsCACCGGGGCCCCCCCACCAGCT
ENST00000262186.10:c.439_460delinsCACCGGGGCCCCCCCACCAGCT MANE Select	ENSP00000262186.5:p.His147=
ENST00000262186.9:c.439_460delinsCACCGGGGCCCCCCCACCAGCT	ENSP00000262186.5:p.His147=
ENST00000430723.4:c.234+28_234+49delinsCACCGGGGCCCCCCCACCAGCT	ENSP00000387657.4:n.234+28_234+49delinsCACCGGGGCCCCCCCACCAGCT...
ENST00000532957.5:n.662_683delinsCACCGGGGCCCCCCCACCAGCT
NM_000238.3:c.439_460delinsCACCGGGGCCCCCCCACCAGCT , LRG_288t1:c.439_460delinsCACCGGGGCCCCCCCACCAGCT	NP_000229.1:p.His147=
NM_172056.2:c.439_460delinsCACCGGGGCCCCCCCACCAGCT , LRG_288t2:c.439_460delinsCACCGGGGCCCCCCCACCAGCT	NP_742053.1:p.His147=
XM_011516185.1:c.139_160delinsCACCGGGGCCCCCCCACCAGCT	XP_011514487.1:p.His47=
XM_011516186.1:c.439_460delinsCACCGGGGCCCCCCCACCAGCT	XP_011514488.1:p.His147=
XM_011516185.2:c.139_160delinsCACCGGGGCCCCCCCACCAGCT	XP_011514487.1:p.His47=
XM_011516186.3:c.439_460delinsCACCGGGGCCCCCCCACCAGCT	XP_011514488.1:p.His147=
XM_017012195.1:c.289_310delinsCACCGGGGCCCCCCCACCAGCT	XP_016867684.1:p.His97=
XM_017012196.1:c.262_283delinsCACCGGGGCCCCCCCACCAGCT	XP_016867685.1:p.His88=
NM_000238.4:c.439_460delinsCACCGGGGCCCCCCCACCAGCT MANE Select	NP_000229.1:p.His147=