Canonical Allele Identifier: CA2695208665

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959660_150959671del , CM000669.2:g.150959660_150959671del	GRCh38
NC_000007.13:g.150656748_150656759del , CM000669.1:g.150656748_150656759del	GRCh37
NC_000007.12:g.150287681_150287692del	NCBI36
NG_008916.1:g.23259_23270del , LRG_288:g.23259_23270del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1209_1220del
ENST00000262186.10:c.376_387del MANE Select	ENSP00000262186.5:p.Ile126_Phe129del
ENST00000262186.9:c.376_387del	ENSP00000262186.5:p.Ile126_Phe129del
ENST00000430723.4:c.199_210del	ENSP00000387657.4:p.Ile67_Phe70del
ENST00000532957.5:n.599_610del
NM_000238.3:c.376_387del , LRG_288t1:c.376_387del	NP_000229.1:p.Ile126_Phe129del
NM_172056.2:c.376_387del , LRG_288t2:c.376_387del	NP_742053.1:p.Ile126_Phe129del
XM_011516185.1:c.76_87del	XP_011514487.1:p.Ile26_Phe29del
XM_011516186.1:c.376_387del	XP_011514488.1:p.Ile126_Phe129del
XM_011516185.2:c.76_87del	XP_011514487.1:p.Ile26_Phe29del
XM_011516186.3:c.376_387del	XP_011514488.1:p.Ile126_Phe129del
XM_017012195.1:c.226_237del	XP_016867684.1:p.Ile76_Phe79del
XM_017012196.1:c.199_210del	XP_016867685.1:p.Ile67_Phe70del
NM_000238.4:c.376_387del MANE Select	NP_000229.1:p.Ile126_Phe129del