Canonical Allele Identifier: CA1752418595

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958404_150958413delinsGGGCGCCCGC , CM000669.2:g.150958404_150958413delinsGGGCGCCCGC	GRCh38
NC_000007.13:g.150655492_150655501delinsGGGCGCCCGC , CM000669.1:g.150655492_150655501delinsGGGCGCCCGC	GRCh37
NC_000007.12:g.150286425_150286434delinsGGGCGCCCGC	NCBI36
NG_008916.1:g.24514_24523delinsGCGGGCGCCC , LRG_288:g.24514_24523delinsGCGGGCGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1395_1404delinsGCGGGCGCCC
ENST00000262186.10:c.562_571delinsGCGGGCGCCC MANE Select	ENSP00000262186.5:p.Ala188=
ENST00000262186.9:c.562_571delinsGCGGGCGCCC	ENSP00000262186.5:p.Ala188=
ENST00000430723.4:c.235-21_235-12delinsGCGGGCGCCC	ENSP00000387657.4:n.235-21_235-12delinsGCGGGCGCCC
ENST00000532957.5:n.785_794delinsGCGGGCGCCC
NM_000238.3:c.562_571delinsGCGGGCGCCC , LRG_288t1:c.562_571delinsGCGGGCGCCC	NP_000229.1:p.Ala188=
NM_172056.2:c.562_571delinsGCGGGCGCCC , LRG_288t2:c.562_571delinsGCGGGCGCCC	NP_742053.1:p.Ala188=
XM_011516185.1:c.262_271delinsGCGGGCGCCC	XP_011514487.1:p.Ala88=
XM_011516186.1:c.562_571delinsGCGGGCGCCC	XP_011514488.1:p.Ala188=
XM_011516185.2:c.262_271delinsGCGGGCGCCC	XP_011514487.1:p.Ala88=
XM_011516186.3:c.562_571delinsGCGGGCGCCC	XP_011514488.1:p.Ala188=
XM_017012195.1:c.412_421delinsGCGGGCGCCC	XP_016867684.1:p.Ala138=
XM_017012196.1:c.385_394delinsGCGGGCGCCC	XP_016867685.1:p.Ala129=
NM_000238.4:c.562_571delinsGCGGGCGCCC MANE Select	NP_000229.1:p.Ala188=