Canonical Allele Identifier: CA2685607086

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150977804-G-GGCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977804_150977805insGCCCCCCCC , CM000669.2:g.150977804_150977805insGCCCCCCCC	GRCh38
NC_000007.13:g.150674892_150674893insGCCCCCCCC , CM000669.1:g.150674892_150674893insGCCCCCCCC	GRCh37
NC_000007.12:g.150305825_150305826insGCCCCCCCC	NCBI36
NG_008916.1:g.5122_5123insGGGGGGGGC , LRG_288:g.5122_5123insGGGGGGGGC

Transcript Alleles

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