Canonical Allele Identifier: CA2740901139

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977804_150977805insGCCCCCCCCCC , CM000669.2:g.150977804_150977805insGCCCCCCCCCC	GRCh38
NC_000007.13:g.150674892_150674893insGCCCCCCCCCC , CM000669.1:g.150674892_150674893insGCCCCCCCCCC	GRCh37
NC_000007.12:g.150305825_150305826insGCCCCCCCCCC	NCBI36
NG_008916.1:g.5122_5123insGGGGGGGGGGC , LRG_288:g.5122_5123insGGGGGGGGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.76+33_76+34insGGGGGGGGGGC MANE Select	ENSP00000262186.5:n.76+33_76+34insGGGGGGGGGGC
ENST00000262186.9:c.76+33_76+34insGGGGGGGGGGC	ENSP00000262186.5:n.76+33_76+34insGGGGGGGGGGC
ENST00000430723.4:c.-102+33_-102+34insGGGGGGGGGGC	ENSP00000387657.4:n.-102+33_-102+34insGGGGGGGGGGC
ENST00000532957.5:n.299+33_299+34insGGGGGGGGGGC
NM_000238.3:c.76+33_76+34insGGGGGGGGGGC , LRG_288t1:c.76+33_76+34insGGGGGGGGGGC	NP_000229.1:n.76+33_76+34insGGGGGGGGGGC
NM_172056.2:c.76+33_76+34insGGGGGGGGGGC , LRG_288t2:c.76+33_76+34insGGGGGGGGGGC	NP_742053.1:n.76+33_76+34insGGGGGGGGGGC
XM_011516186.1:c.76+33_76+34insGGGGGGGGGGC	XP_011514488.1:n.76+33_76+34insGGGGGGGGGGC
XM_011516186.3:c.76+33_76+34insGGGGGGGGGGC	XP_011514488.1:n.76+33_76+34insGGGGGGGGGGC
NM_000238.4:c.76+33_76+34insGGGGGGGGGGC MANE Select	NP_000229.1:n.76+33_76+34insGGGGGGGGGGC