Canonical Allele Identifier: CA10637873
Gene: KCNJ5 HGNC NCBI

Linked Data

ClinVar Variation Id: 303616
ClinVar RCV Id: RCV000278502 RCV000398967
dbSNP Id: rs71057905
gnomAD v3: 11-128891441-C-CAG
gnomAD v4: 11-128891441-C-CAG
MyVariant Identifiers: chr11:g.128761370_128761371dupGA (hg19) chr11:g.128761371_128761372insGA (hg19) chr11:g.128761336_128761337insAG (hg19) chr11:g.128891475_128891476dupGA (hg38) chr11:g.128891476_128891477insGA (hg38) chr11:g.128891441_128891442insAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128891475_128891476dup , CM000673.2:g.128891475_128891476dup GRCh38
NC_000011.9:g.128761370_128761371dup , CM000673.1:g.128761370_128761371dup GRCh37
NC_000011.8:g.128266580_128266581dup NCBI36
NG_023406.2:g.5058_5059dup , LRG_333:g.5058_5059dup

Transcript Alleles

HGVS Amino-acid change
ENST00000529694.6:c.-257_-256dup MANE Select ENSP00000433295.1:n.-257_-256dup
ENST00000529694.5:c.-257_-256dup ENSP00000433295.1:n.-257_-256dup
NM_000890.3:c.-257_-256dup , LRG_333t1:c.-257_-256dup NP_000881.3:n.-257_-256dup
NM_000890.4:c.-257_-256dup NP_000881.3:n.-257_-256dup
NM_001354169.1:c.-346_-345dup NP_001341098.1:n.-346_-345dup
NM_000890.5:c.-257_-256dup MANE Select NP_000881.3:n.-257_-256dup
NM_001354169.2:c.-346_-345dup NP_001341098.1:n.-346_-345dup
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