Canonical Allele Identifier: CA10637863
Gene: KCNJ5 HGNC NCBI

Linked Data

ClinVar Variation Id: 303615
ClinVar RCV Id: RCV000286831 RCV000341775
dbSNP Id: rs113761140
gnomAD v3: 11-128891397-G-GACAC
gnomAD v4: 11-128891397-G-GACAC
MyVariant Identifiers: chr11:g.128761334_128761337dupCACA (hg19) chr11:g.128761337_128761338insCACA (hg19) chr11:g.128761292_128761293insACAC (hg19) chr11:g.128891439_128891442dupCACA (hg38) chr11:g.128891442_128891443insCACA (hg38) chr11:g.128891397_128891398insACAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128891439_128891442dup , CM000673.2:g.128891439_128891442dup GRCh38
NC_000011.9:g.128761334_128761337dup , CM000673.1:g.128761334_128761337dup GRCh37
NC_000011.8:g.128266544_128266547dup NCBI36
NG_023406.2:g.5022_5025dup , LRG_333:g.5022_5025dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000529694.6:c.-293_-290dup MANE Select ENSP00000433295.1:n.-293_-290dup
ENST00000529694.5:c.-293_-290dup ENSP00000433295.1:n.-293_-290dup
NM_000890.4:c.-293_-290dup NP_000881.3:n.-293_-290dup
NM_001354169.1:c.-382_-379dup NP_001341098.1:n.-382_-379dup
NM_000890.5:c.-293_-290dup MANE Select NP_000881.3:n.-293_-290dup
NM_001354169.2:c.-382_-379dup NP_001341098.1:n.-382_-379dup
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