Canonical Allele Identifier: CA1108704935
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948425_150948426insCCCCCCCCCC , CM000669.2:g.150948425_150948426insCCCCCCCCCC GRCh38
NC_000007.13:g.150645513_150645514insCCCCCCCCCC , CM000669.1:g.150645513_150645514insCCCCCCCCCC GRCh37
NC_000007.12:g.150276446_150276447insCCCCCCCCCC NCBI36
NG_008916.1:g.34503_34504insGGGGGGGGGG , LRG_288:g.34503_34504insGGGGGGGGGG

Transcript Alleles

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