Canonical Allele Identifier: CA2604032918
Gene: KCNJ5 HGNC NCBI

Linked Data

gnomAD v3: 11-128891435-CACACA-C
gnomAD v4: 11-128891435-CACACA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128891436_128891440del , CM000673.2:g.128891436_128891440del GRCh38
NC_000011.9:g.128761331_128761335del , CM000673.1:g.128761331_128761335del GRCh37
NC_000011.8:g.128266541_128266545del NCBI36
NG_023406.2:g.5019_5023del , LRG_333:g.5019_5023del

Transcript Alleles

HGVS Amino-acid Change
ENST00000529694.6:c.-296_-292del MANE Select ENSP00000433295.1:n.-296_-292del
ENST00000529694.5:c.-296_-292del ENSP00000433295.1:n.-296_-292del
NM_000890.3:c.-296_-292del , LRG_333t1:c.-296_-292del NP_000881.3:n.-296_-292del
NM_000890.4:c.-296_-292del NP_000881.3:n.-296_-292del
NM_001354169.1:c.-385_-381del NP_001341098.1:n.-385_-381del
NM_000890.5:c.-296_-292del MANE Select NP_000881.3:n.-296_-292del
NM_001354169.2:c.-385_-381del NP_001341098.1:n.-385_-381del
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