Canonical Allele Identifier: CA1752430601

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947923_150947926delinsAGAG , CM000669.2:g.150947923_150947926delinsAGAG	GRCh38
NC_000007.13:g.150645011_150645014delinsAGAG , CM000669.1:g.150645011_150645014delinsAGAG	GRCh37
NC_000007.12:g.150275944_150275947delinsAGAG	NCBI36
NG_008916.1:g.35001_35004delinsCTCT , LRG_288:g.35001_35004delinsCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3526-48_3526-45delinsCTCT
ENST00000262186.10:c.2693-48_2693-45delinsCTCT MANE Select	ENSP00000262186.5:n.2693-48_2693-45delinsCTCT
ENST00000330883.9:c.1673-48_1673-45delinsCTCT	ENSP00000328531.4:n.1673-48_1673-45delinsCTCT
ENST00000262186.9:c.2693-48_2693-45delinsCTCT	ENSP00000262186.5:n.2693-48_2693-45delinsCTCT
ENST00000330883.8:c.1673-48_1673-45delinsCTCT	ENSP00000328531.4:n.1673-48_1673-45delinsCTCT
NM_000238.3:c.2693-48_2693-45delinsCTCT , LRG_288t1:c.2693-48_2693-45delinsCTCT	NP_000229.1:n.2693-48_2693-45delinsCTCT
NM_172057.2:c.1673-48_1673-45delinsCTCT , LRG_288t3:c.1673-48_1673-45delinsCTCT	NP_742054.1:n.1673-48_1673-45delinsCTCT
XM_011516185.1:c.2393-48_2393-45delinsCTCT	XP_011514487.1:n.2393-48_2393-45delinsCTCT
XM_011516186.1:c.2693-235_2693-232delinsCTCT	XP_011514488.1:n.2693-235_2693-232delinsCTCT
XM_011516185.2:c.2393-48_2393-45delinsCTCT	XP_011514487.1:n.2393-48_2393-45delinsCTCT
XM_011516186.3:c.2693-235_2693-232delinsCTCT	XP_011514488.1:n.2693-235_2693-232delinsCTCT
XM_017012195.1:c.2543-48_2543-45delinsCTCT	XP_016867684.1:n.2543-48_2543-45delinsCTCT
XM_017012196.1:c.2516-48_2516-45delinsCTCT	XP_016867685.1:n.2516-48_2516-45delinsCTCT
NM_000238.4:c.2693-48_2693-45delinsCTCT MANE Select	NP_000229.1:n.2693-48_2693-45delinsCTCT
NM_172057.3:c.1673-48_1673-45delinsCTCT	NP_742054.1:n.1673-48_1673-45delinsCTCT