Canonical Allele Identifier: CA2695208816

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948477_150948489del , CM000669.2:g.150948477_150948489del	GRCh38
NC_000007.13:g.150645565_150645577del , CM000669.1:g.150645565_150645577del	GRCh37
NC_000007.12:g.150276498_150276510del	NCBI36
NG_008916.1:g.34438_34450del , LRG_288:g.34438_34450del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3480_3492del
ENST00000262186.10:c.2647_2659del MANE Select	ENSP00000262186.5:p.Arg883AlafsTer?
ENST00000330883.9:c.1627_1639del	ENSP00000328531.4:p.Arg543AlafsTer?
ENST00000262186.9:c.2647_2659del	ENSP00000262186.5:p.Arg883AlafsTer?
ENST00000330883.8:c.1627_1639del	ENSP00000328531.4:p.Arg543AlafsTer?
NM_000238.3:c.2647_2659del , LRG_288t1:c.2647_2659del	NP_000229.1:p.Arg883AlafsTer?
NM_172057.2:c.1627_1639del , LRG_288t3:c.1627_1639del	NP_742054.1:p.Arg543AlafsTer?
XM_011516185.1:c.2347_2359del	XP_011514487.1:p.Arg783AlafsTer?
XM_011516186.1:c.2647_2659del	XP_011514488.1:p.Arg883AlafsTer?
XM_011516185.2:c.2347_2359del	XP_011514487.1:p.Arg783AlafsTer?
XM_011516186.3:c.2647_2659del	XP_011514488.1:p.Arg883AlafsTer?
XM_017012195.1:c.2497_2509del	XP_016867684.1:p.Arg833AlafsTer?
XM_017012196.1:c.2470_2482del	XP_016867685.1:p.Arg824AlafsTer?
NM_000238.4:c.2647_2659del MANE Select	NP_000229.1:p.Arg883AlafsTer?
NM_172057.3:c.1627_1639del	NP_742054.1:p.Arg543AlafsTer?