Canonical Allele Identifier: CA2685602651

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948426-T-TCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948430_150948431insCCCCCC , CM000669.2:g.150948430_150948431insCCCCCC	GRCh38
NC_000007.13:g.150645518_150645519insCCCCCC , CM000669.1:g.150645518_150645519insCCCCCC	GRCh37
NC_000007.12:g.150276451_150276452insCCCCCC	NCBI36
NG_008916.1:g.34500_34501insGGGGGG , LRG_288:g.34500_34501insGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+17_3525+18insGGGGGG
ENST00000262186.10:c.2692+17_2692+18insGGGGGG MANE Select	ENSP00000262186.5:n.2692+17_2692+18insGGGGGG
ENST00000330883.9:c.1672+17_1672+18insGGGGGG	ENSP00000328531.4:n.1672+17_1672+18insGGGGGG
ENST00000262186.9:c.2692+17_2692+18insGGGGGG	ENSP00000262186.5:n.2692+17_2692+18insGGGGGG
ENST00000330883.8:c.1672+17_1672+18insGGGGGG	ENSP00000328531.4:n.1672+17_1672+18insGGGGGG
NM_000238.3:c.2692+17_2692+18insGGGGGG , LRG_288t1:c.2692+17_2692+18insGGGGGG	NP_000229.1:n.2692+17_2692+18insGGGGGG
NM_172057.2:c.1672+17_1672+18insGGGGGG , LRG_288t3:c.1672+17_1672+18insGGGGGG	NP_742054.1:n.1672+17_1672+18insGGGGGG
XM_011516185.1:c.2392+17_2392+18insGGGGGG	XP_011514487.1:n.2392+17_2392+18insGGGGGG
XM_011516186.1:c.2692+17_2692+18insGGGGGG	XP_011514488.1:n.2692+17_2692+18insGGGGGG
XM_011516185.2:c.2392+17_2392+18insGGGGGG	XP_011514487.1:n.2392+17_2392+18insGGGGGG
XM_011516186.3:c.2692+17_2692+18insGGGGGG	XP_011514488.1:n.2692+17_2692+18insGGGGGG
XM_017012195.1:c.2542+17_2542+18insGGGGGG	XP_016867684.1:n.2542+17_2542+18insGGGGGG
XM_017012196.1:c.2515+17_2515+18insGGGGGG	XP_016867685.1:n.2515+17_2515+18insGGGGGG
NM_000238.4:c.2692+17_2692+18insGGGGGG MANE Select	NP_000229.1:n.2692+17_2692+18insGGGGGG
NM_172057.3:c.1672+17_1672+18insGGGGGG	NP_742054.1:n.1672+17_1672+18insGGGGGG