Canonical Allele Identifier: CA602374065
Gene: KCNJ5 HGNC NCBI

Linked Data

dbSNP Id: rs113761140
gnomAD v2: 11-128761292-GACACAC-G
gnomAD v3: 11-128891397-GACACAC-G
gnomAD v4: 11-128891397-GACACAC-G
MyVariant Identifiers: chr11:g.128761301_128761306del (hg19) chr11:g.128761293_128761298del (hg19) chr11:g.128891406_128891411del (hg38) chr11:g.128891398_128891403del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128891437_128891442del , CM000673.2:g.128891437_128891442del GRCh38
NC_000011.9:g.128761332_128761337del , CM000673.1:g.128761332_128761337del GRCh37
NC_000011.8:g.128266542_128266547del NCBI36
NG_023406.2:g.5020_5025del , LRG_333:g.5020_5025del

Transcript Alleles

HGVS Amino-acid Change
ENST00000529694.6:c.-295_-290del MANE Select ENSP00000433295.1:n.-295_-290del
ENST00000529694.5:c.-295_-290del ENSP00000433295.1:n.-295_-290del
NM_000890.4:c.-295_-290del NP_000881.3:n.-295_-290del
NM_001354169.1:c.-384_-379del NP_001341098.1:n.-384_-379del
NM_000890.5:c.-295_-290del MANE Select NP_000881.3:n.-295_-290del
NM_001354169.2:c.-384_-379del NP_001341098.1:n.-384_-379del
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