Canonical Allele Identifier: CA943482708
Gene: KCNJ5 HGNC NCBI

Linked Data

gnomAD v3: 11-128891478-T-TGAGAGAGA
gnomAD v4: 11-128891478-T-TGAGAGAGA
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128891479_128891480insAGAGAGAG , CM000673.2:g.128891479_128891480insAGAGAGAG GRCh38
NC_000011.9:g.128761374_128761375insAGAGAGAG , CM000673.1:g.128761374_128761375insAGAGAGAG GRCh37
NC_000011.8:g.128266584_128266585insAGAGAGAG NCBI36
NG_023406.2:g.5062_5063insAGAGAGAG , LRG_333:g.5062_5063insAGAGAGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000529694.6:c.-253_-252insAGAGAGAG MANE Select ENSP00000433295.1:n.-253_-252insAGAGAGAG
ENST00000338350.4:c.-342_-341insAGAGAGAG ENSP00000339960.4:n.-342_-341insAGAGAGAG
ENST00000529694.5:c.-253_-252insAGAGAGAG ENSP00000433295.1:n.-253_-252insAGAGAGAG
NM_000890.3:c.-253_-252insAGAGAGAG , LRG_333t1:c.-253_-252insAGAGAGAG NP_000881.3:n.-253_-252insAGAGAGAG
NM_000890.4:c.-253_-252insAGAGAGAG NP_000881.3:n.-253_-252insAGAGAGAG
NM_001354169.1:c.-342_-341insAGAGAGAG NP_001341098.1:n.-342_-341insAGAGAGAG
NM_000890.5:c.-253_-252insAGAGAGAG MANE Select NP_000881.3:n.-253_-252insAGAGAGAG
NM_001354169.2:c.-342_-341insAGAGAGAG NP_001341098.1:n.-342_-341insAGAGAGAG
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