Canonical Allele Identifier: CA005965

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951484_150951485del , CM000669.2:g.150951484_150951485del	GRCh38
NC_000007.13:g.150648572_150648573del , CM000669.1:g.150648572_150648573del	GRCh37
NC_000007.12:g.150279505_150279506del	NCBI36
NG_008916.1:g.31445_31446del , LRG_288:g.31445_31446del

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.1911_1912del MANE Select	NP_000229.1:p.Lys638AspfsTer16
ENST00000262186.10:c.1911_1912del MANE Select	ENSP00000262186.5:p.Lys638AspfsTer16
NM_000238.3:c.1911_1912del , LRG_288t1:c.1911_1912del	NP_000229.1:p.Lys638AspfsTer16
NM_001204798.1:c.891_892del	NP_001191727.1:p.Lys298AspfsTer16
NM_001204798.2:c.891_892del	NP_001191727.1:p.Lys298AspfsTer16
NM_172056.2:c.1911_1912del , LRG_288t2:c.1911_1912del	NP_742053.1:p.Lys638AspfsTer16
NM_172057.2:c.891_892del , LRG_288t3:c.891_892del	NP_742054.1:p.Lys298AspfsTer16
NM_172057.3:c.891_892del	NP_742054.1:p.Lys298AspfsTer16
ENST00000262186.9:c.1911_1912del	ENSP00000262186.5:p.Lys638AspfsTer16
ENST00000330883.8:c.891_892del	ENSP00000328531.4:p.Lys298AspfsTer16
ENST00000330883.9:c.891_892del	ENSP00000328531.4:p.Lys298AspfsTer16
ENST00000430723.4:c.1563_1564del	ENSP00000387657.4:p.Lys522AspfsTer16
ENST00000461280.1:n.1198_1199del
ENST00000461280.2:n.1209_1210del
ENST00000473610.5:n.1216_1217del
ENST00000532957.5:n.2134_2135del
ENST00000683359.1:n.35_36del
ENST00000684241.1:n.2744_2745del
XM_011516185.1:c.1611_1612del	XP_011514487.1:p.Lys538AspfsTer16
XM_011516185.2:c.1611_1612del	XP_011514487.1:p.Lys538AspfsTer16
XM_011516186.1:c.1911_1912del	XP_011514488.1:p.Lys638AspfsTer16
XM_011516186.3:c.1911_1912del	XP_011514488.1:p.Lys638AspfsTer16
XM_017012195.1:c.1761_1762del	XP_016867684.1:p.Lys588AspfsTer16
XM_017012196.1:c.1734_1735del	XP_016867685.1:p.Lys579AspfsTer16