Canonical Allele Identifier: CA673261744
Gene: KCNJ5 HGNC NCBI

Linked Data

dbSNP Id: rs1241878489
gnomAD v3: 11-128891429-CACACACACACACAGAGAGAGAGAGAG-C
gnomAD v4: 11-128891429-CACACACACACACAGAGAGAGAGAGAG-C
MyVariant Identifiers: chr11:g.128761325_128761350del (hg19) chr11:g.128891430_128891455del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128891431_128891456del , CM000673.2:g.128891431_128891456del GRCh38
NC_000011.9:g.128761326_128761351del , CM000673.1:g.128761326_128761351del GRCh37
NC_000011.8:g.128266536_128266561del NCBI36
NG_023406.2:g.5014_5039del , LRG_333:g.5014_5039del

Transcript Alleles

HGVS Amino-acid Change
ENST00000529694.6:c.-301_-276del MANE Select ENSP00000433295.1:n.-301_-276del
ENST00000529694.5:c.-301_-276del ENSP00000433295.1:n.-301_-276del
NM_000890.3:c.-301_-276del , LRG_333t1:c.-301_-276del NP_000881.3:n.-301_-276del
NM_000890.4:c.-301_-276del NP_000881.3:n.-301_-276del
NM_001354169.1:c.-390_-365del NP_001341098.1:n.-390_-365del
NM_000890.5:c.-301_-276del MANE Select NP_000881.3:n.-301_-276del
NM_001354169.2:c.-390_-365del NP_001341098.1:n.-390_-365del
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