Canonical Allele Identifier: CA1108704930

Gene: KCNH2

Linked Data

• gnomAD v3: 7-150948423-T-TCCCCCCCCCCCCCCC
• gnomAD v4: 7-150948423-T-TCCCCCCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948425_150948426insCCCCCCCCCCCCCCC , CM000669.2:g.150948425_150948426insCCCCCCCCCCCCCCC	GRCh38
NC_000007.13:g.150645513_150645514insCCCCCCCCCCCCCCC , CM000669.1:g.150645513_150645514insCCCCCCCCCCCCCCC	GRCh37
NC_000007.12:g.150276446_150276447insCCCCCCCCCCCCCCC	NCBI36
NG_008916.1:g.34503_34504insGGGGGGGGGGGGGGG , LRG_288:g.34503_34504insGGGGGGGGGGGGGGG

Transcript Alleles

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