Canonical Allele Identifier: CA2685602607

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948423-T-TCCGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948425_150948426insGCCCCC , CM000669.2:g.150948425_150948426insGCCCCC	GRCh38
NC_000007.13:g.150645513_150645514insGCCCCC , CM000669.1:g.150645513_150645514insGCCCCC	GRCh37
NC_000007.12:g.150276446_150276447insGCCCCC	NCBI36
NG_008916.1:g.34503_34504insGGGCGG , LRG_288:g.34503_34504insGGGCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+20_3525+21insGGGCGG
ENST00000262186.10:c.2692+20_2692+21insGGGCGG MANE Select	ENSP00000262186.5:n.2692+20_2692+21insGGGCGG
ENST00000330883.9:c.1672+20_1672+21insGGGCGG	ENSP00000328531.4:n.1672+20_1672+21insGGGCGG
ENST00000262186.9:c.2692+20_2692+21insGGGCGG	ENSP00000262186.5:n.2692+20_2692+21insGGGCGG
ENST00000330883.8:c.1672+20_1672+21insGGGCGG	ENSP00000328531.4:n.1672+20_1672+21insGGGCGG
NM_000238.3:c.2692+20_2692+21insGGGCGG , LRG_288t1:c.2692+20_2692+21insGGGCGG	NP_000229.1:n.2692+20_2692+21insGGGCGG
NM_172057.2:c.1672+20_1672+21insGGGCGG , LRG_288t3:c.1672+20_1672+21insGGGCGG	NP_742054.1:n.1672+20_1672+21insGGGCGG
XM_011516185.1:c.2392+20_2392+21insGGGCGG	XP_011514487.1:n.2392+20_2392+21insGGGCGG
XM_011516186.1:c.2692+20_2692+21insGGGCGG	XP_011514488.1:n.2692+20_2692+21insGGGCGG
XM_011516185.2:c.2392+20_2392+21insGGGCGG	XP_011514487.1:n.2392+20_2392+21insGGGCGG
XM_011516186.3:c.2692+20_2692+21insGGGCGG	XP_011514488.1:n.2692+20_2692+21insGGGCGG
XM_017012195.1:c.2542+20_2542+21insGGGCGG	XP_016867684.1:n.2542+20_2542+21insGGGCGG
XM_017012196.1:c.2515+20_2515+21insGGGCGG	XP_016867685.1:n.2515+20_2515+21insGGGCGG
NM_000238.4:c.2692+20_2692+21insGGGCGG MANE Select	NP_000229.1:n.2692+20_2692+21insGGGCGG
NM_172057.3:c.1672+20_1672+21insGGGCGG	NP_742054.1:n.1672+20_1672+21insGGGCGG