Canonical Allele Identifier: CA658761323

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948454_150948460del , CM000669.2:g.150948454_150948460del	GRCh38
NC_000007.13:g.150645542_150645548del , CM000669.1:g.150645542_150645548del	GRCh37
NC_000007.12:g.150276475_150276481del	NCBI36
NG_008916.1:g.34467_34473del , LRG_288:g.34467_34473del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3509_3515del
ENST00000262186.10:c.2676_2682del MANE Select	ENSP00000262186.5:p.Arg894ThrfsTer?
ENST00000330883.9:c.1656_1662del	ENSP00000328531.4:p.Arg554ThrfsTer?
ENST00000262186.9:c.2676_2682del	ENSP00000262186.5:p.Arg894ThrfsTer?
ENST00000330883.8:c.1656_1662del	ENSP00000328531.4:p.Arg554ThrfsTer?
NM_000238.3:c.2676_2682del , LRG_288t1:c.2676_2682del	NP_000229.1:p.Arg894ThrfsTer?
NM_172057.2:c.1656_1662del , LRG_288t3:c.1656_1662del	NP_742054.1:p.Arg554ThrfsTer?
XM_011516185.1:c.2376_2382del	XP_011514487.1:p.Arg794ThrfsTer?
XM_011516186.1:c.2676_2682del	XP_011514488.1:p.Arg894ThrfsTer?
XM_011516185.2:c.2376_2382del	XP_011514487.1:p.Arg794ThrfsTer?
XM_011516186.3:c.2676_2682del	XP_011514488.1:p.Arg894ThrfsTer?
XM_017012195.1:c.2526_2532del	XP_016867684.1:p.Arg844ThrfsTer?
XM_017012196.1:c.2499_2505del	XP_016867685.1:p.Arg835ThrfsTer?
NM_000238.4:c.2676_2682del MANE Select	NP_000229.1:p.Arg894ThrfsTer?
NM_172057.3:c.1656_1662del	NP_742054.1:p.Arg554ThrfsTer?