Canonical Allele Identifier: CA1752430995

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948329_150948330delinsAG , CM000669.2:g.150948329_150948330delinsAG	GRCh38
NC_000007.13:g.150645417_150645418delinsAG , CM000669.1:g.150645417_150645418delinsAG	GRCh37
NC_000007.12:g.150276350_150276351delinsAG	NCBI36
NG_008916.1:g.34597_34598delinsCT , LRG_288:g.34597_34598delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+114_3525+115delinsCT
ENST00000262186.10:c.2692+114_2692+115delinsCT MANE Select	ENSP00000262186.5:n.2692+114_2692+115delinsCT
ENST00000330883.9:c.1672+114_1672+115delinsCT	ENSP00000328531.4:n.1672+114_1672+115delinsCT
ENST00000262186.9:c.2692+114_2692+115delinsCT	ENSP00000262186.5:n.2692+114_2692+115delinsCT
ENST00000330883.8:c.1672+114_1672+115delinsCT	ENSP00000328531.4:n.1672+114_1672+115delinsCT
NM_000238.3:c.2692+114_2692+115delinsCT , LRG_288t1:c.2692+114_2692+115delinsCT	NP_000229.1:n.2692+114_2692+115delinsCT
NM_172057.2:c.1672+114_1672+115delinsCT , LRG_288t3:c.1672+114_1672+115delinsCT	NP_742054.1:n.1672+114_1672+115delinsCT
XM_011516185.1:c.2392+114_2392+115delinsCT	XP_011514487.1:n.2392+114_2392+115delinsCT
XM_011516186.1:c.2692+114_2692+115delinsCT	XP_011514488.1:n.2692+114_2692+115delinsCT
XM_011516185.2:c.2392+114_2392+115delinsCT	XP_011514487.1:n.2392+114_2392+115delinsCT
XM_011516186.3:c.2692+114_2692+115delinsCT	XP_011514488.1:n.2692+114_2692+115delinsCT
XM_017012195.1:c.2542+114_2542+115delinsCT	XP_016867684.1:n.2542+114_2542+115delinsCT
XM_017012196.1:c.2515+114_2515+115delinsCT	XP_016867685.1:n.2515+114_2515+115delinsCT
NM_000238.4:c.2692+114_2692+115delinsCT MANE Select	NP_000229.1:n.2692+114_2692+115delinsCT
NM_172057.3:c.1672+114_1672+115delinsCT	NP_742054.1:n.1672+114_1672+115delinsCT