Canonical Allele Identifier: CA1139771294

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947813_150947831del , CM000669.2:g.150947813_150947831del	GRCh38
NC_000007.13:g.150644901_150644919del , CM000669.1:g.150644901_150644919del	GRCh37
NC_000007.12:g.150275834_150275852del	NCBI36
NG_008916.1:g.35101_35119del , LRG_288:g.35101_35119del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3578_3596del
ENST00000262186.10:c.2745_2763del MANE Select	ENSP00000262186.5:p.Pro917ArgfsTer?
ENST00000330883.9:c.1725_1743del	ENSP00000328531.4:p.Pro577ArgfsTer?
ENST00000262186.9:c.2745_2763del	ENSP00000262186.5:p.Pro917ArgfsTer?
ENST00000330883.8:c.1725_1743del	ENSP00000328531.4:p.Pro577ArgfsTer?
NM_000238.3:c.2745_2763del , LRG_288t1:c.2745_2763del	NP_000229.1:p.Pro917ArgfsTer?
NM_172057.2:c.1725_1743del , LRG_288t3:c.1725_1743del	NP_742054.1:p.Pro577ArgfsTer?
XM_011516185.1:c.2445_2463del	XP_011514487.1:p.Pro817ArgfsTer?
XM_011516186.1:c.2693-135_2693-117del	XP_011514488.1:n.2693-135_2693-117del
XM_011516185.2:c.2445_2463del	XP_011514487.1:p.Pro817ArgfsTer?
XM_011516186.3:c.2693-135_2693-117del	XP_011514488.1:n.2693-135_2693-117del
XM_017012195.1:c.2595_2613del	XP_016867684.1:p.Pro867ArgfsTer?
XM_017012196.1:c.2568_2586del	XP_016867685.1:p.Pro858ArgfsTer?
NM_000238.4:c.2745_2763del MANE Select	NP_000229.1:p.Pro917ArgfsTer?
NM_172057.3:c.1725_1743del	NP_742054.1:p.Pro577ArgfsTer?