Canonical Allele Identifier: CA1752431249

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948445_150948449delinsCTTGT , CM000669.2:g.150948445_150948449delinsCTTGT	GRCh38
NC_000007.13:g.150645533_150645537delinsCTTGT , CM000669.1:g.150645533_150645537delinsCTTGT	GRCh37
NC_000007.12:g.150276466_150276470delinsCTTGT	NCBI36
NG_008916.1:g.34478_34482delinsACAAG , LRG_288:g.34478_34482delinsACAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3520_3524delinsACAAG
ENST00000262186.10:c.2687_2691delinsACAAG MANE Select	ENSP00000262186.5:p.Asp896=
ENST00000330883.9:c.1667_1671delinsACAAG	ENSP00000328531.4:p.Asp556=
ENST00000262186.9:c.2687_2691delinsACAAG	ENSP00000262186.5:p.Asp896=
ENST00000330883.8:c.1667_1671delinsACAAG	ENSP00000328531.4:p.Asp556=
NM_000238.3:c.2687_2691delinsACAAG , LRG_288t1:c.2687_2691delinsACAAG	NP_000229.1:p.Asp896=
NM_172057.2:c.1667_1671delinsACAAG , LRG_288t3:c.1667_1671delinsACAAG	NP_742054.1:p.Asp556=
XM_011516185.1:c.2387_2391delinsACAAG	XP_011514487.1:p.Asp796=
XM_011516186.1:c.2687_2691delinsACAAG	XP_011514488.1:p.Asp896=
XM_011516185.2:c.2387_2391delinsACAAG	XP_011514487.1:p.Asp796=
XM_011516186.3:c.2687_2691delinsACAAG	XP_011514488.1:p.Asp896=
XM_017012195.1:c.2537_2541delinsACAAG	XP_016867684.1:p.Asp846=
XM_017012196.1:c.2510_2514delinsACAAG	XP_016867685.1:p.Asp837=
NM_000238.4:c.2687_2691delinsACAAG MANE Select	NP_000229.1:p.Asp896=
NM_172057.3:c.1667_1671delinsACAAG	NP_742054.1:p.Asp556=