Canonical Allele Identifier: CA1752430097

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947713_150947714delinsAG , CM000669.2:g.150947713_150947714delinsAG	GRCh38
NC_000007.13:g.150644801_150644802delinsAG , CM000669.1:g.150644801_150644802delinsAG	GRCh37
NC_000007.12:g.150275734_150275735delinsAG	NCBI36
NG_008916.1:g.35213_35214delinsCT , LRG_288:g.35213_35214delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3690_3691delinsCT
ENST00000262186.10:c.2857_2858delinsCT MANE Select	ENSP00000262186.5:p.Leu953=
ENST00000330883.9:c.1837_1838delinsCT	ENSP00000328531.4:p.Leu613=
ENST00000262186.9:c.2857_2858delinsCT	ENSP00000262186.5:p.Leu953=
ENST00000330883.8:c.1837_1838delinsCT	ENSP00000328531.4:p.Leu613=
NM_000238.3:c.2857_2858delinsCT , LRG_288t1:c.2857_2858delinsCT	NP_000229.1:p.Leu953=
NM_172057.2:c.1837_1838delinsCT , LRG_288t3:c.1837_1838delinsCT	NP_742054.1:p.Leu613=
XM_011516185.1:c.2557_2558delinsCT	XP_011514487.1:p.Leu853=
XM_011516186.1:c.2693-23_2693-22delinsCT	XP_011514488.1:n.2693-23_2693-22delinsCT
XM_011516185.2:c.2557_2558delinsCT	XP_011514487.1:p.Leu853=
XM_011516186.3:c.2693-23_2693-22delinsCT	XP_011514488.1:n.2693-23_2693-22delinsCT
XM_017012195.1:c.2707_2708delinsCT	XP_016867684.1:p.Leu903=
XM_017012196.1:c.2680_2681delinsCT	XP_016867685.1:p.Leu894=
NM_000238.4:c.2857_2858delinsCT MANE Select	NP_000229.1:p.Leu953=
NM_172057.3:c.1837_1838delinsCT	NP_742054.1:p.Leu613=