Canonical Allele Identifier: CA2685602659
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948430_150948431insCCCCCCCCCCC , CM000669.2:g.150948430_150948431insCCCCCCCCCCC GRCh38
NC_000007.13:g.150645518_150645519insCCCCCCCCCCC , CM000669.1:g.150645518_150645519insCCCCCCCCCCC GRCh37
NC_000007.12:g.150276451_150276452insCCCCCCCCCCC NCBI36
NG_008916.1:g.34500_34501insGGGGGGGGGGG , LRG_288:g.34500_34501insGGGGGGGGGGG

Transcript Alleles

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