Canonical Allele Identifier: CA916084343

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948482_150948485delinsAAGAG , CM000669.2:g.150948482_150948485delinsAAGAG	GRCh38
NC_000007.13:g.150645570_150645573delinsAAGAG , CM000669.1:g.150645570_150645573delinsAAGAG	GRCh37
NC_000007.12:g.150276503_150276506delinsAAGAG	NCBI36
NG_008916.1:g.34442_34445delinsCTCTT , LRG_288:g.34442_34445delinsCTCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3484_3487delinsCTCTT
ENST00000262186.10:c.2651_2654delinsCTCTT MANE Select	ENSP00000262186.5:p.Gln884ProfsTer?
ENST00000330883.9:c.1631_1634delinsCTCTT	ENSP00000328531.4:p.Gln544ProfsTer?
ENST00000262186.9:c.2651_2654delinsCTCTT	ENSP00000262186.5:p.Gln884ProfsTer?
ENST00000330883.8:c.1631_1634delinsCTCTT	ENSP00000328531.4:p.Gln544ProfsTer?
NM_000238.3:c.2651_2654delinsCTCTT , LRG_288t1:c.2651_2654delinsCTCTT	NP_000229.1:p.Gln884ProfsTer?
NM_172057.2:c.1631_1634delinsCTCTT , LRG_288t3:c.1631_1634delinsCTCTT	NP_742054.1:p.Gln544ProfsTer?
XM_011516185.1:c.2351_2354delinsCTCTT	XP_011514487.1:p.Gln784ProfsTer?
XM_011516186.1:c.2651_2654delinsCTCTT	XP_011514488.1:p.Gln884ProfsTer?
XM_011516185.2:c.2351_2354delinsCTCTT	XP_011514487.1:p.Gln784ProfsTer?
XM_011516186.3:c.2651_2654delinsCTCTT	XP_011514488.1:p.Gln884ProfsTer?
XM_017012195.1:c.2501_2504delinsCTCTT	XP_016867684.1:p.Gln834ProfsTer?
XM_017012196.1:c.2474_2477delinsCTCTT	XP_016867685.1:p.Gln825ProfsTer?
NM_000238.4:c.2651_2654delinsCTCTT MANE Select	NP_000229.1:p.Gln884ProfsTer?
NM_172057.3:c.1631_1634delinsCTCTT	NP_742054.1:p.Gln544ProfsTer?