Canonical Allele Identifier: CA1752445510

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977480_150977482delinsCTT , CM000669.2:g.150977480_150977482delinsCTT	GRCh38
NC_000007.13:g.150674568_150674570delinsCTT , CM000669.1:g.150674568_150674570delinsCTT	GRCh37
NC_000007.12:g.150305501_150305503delinsCTT	NCBI36
NG_008916.1:g.5445_5447delinsAAG , LRG_288:g.5445_5447delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.76+356_76+358delinsAAG MANE Select	ENSP00000262186.5:n.76+356_76+358delinsAAG
ENST00000262186.9:c.76+356_76+358delinsAAG	ENSP00000262186.5:n.76+356_76+358delinsAAG
ENST00000430723.4:c.-102+356_-102+358delinsAAG	ENSP00000387657.4:n.-102+356_-102+358delinsAAG
ENST00000532957.5:n.299+356_299+358delinsAAG
NM_000238.3:c.76+356_76+358delinsAAG , LRG_288t1:c.76+356_76+358delinsAAG	NP_000229.1:n.76+356_76+358delinsAAG
NM_172056.2:c.76+356_76+358delinsAAG , LRG_288t2:c.76+356_76+358delinsAAG	NP_742053.1:n.76+356_76+358delinsAAG
XM_011516186.1:c.76+356_76+358delinsAAG	XP_011514488.1:n.76+356_76+358delinsAAG
XM_011516186.3:c.76+356_76+358delinsAAG	XP_011514488.1:n.76+356_76+358delinsAAG
NM_000238.4:c.76+356_76+358delinsAAG MANE Select	NP_000229.1:n.76+356_76+358delinsAAG