Canonical Allele Identifier: CA602374175
Gene: KCNJ5 HGNC NCBI

Linked Data

dbSNP Id: rs1296624232
gnomAD v2: 11-128761374-GTTCC-G
gnomAD v3: 11-128891479-GTTCC-G
gnomAD v4: 11-128891479-GTTCC-G
MyVariant Identifiers: chr11:g.128761375_128761378del (hg19) chr11:g.128761375_128761391delinsAGCTGCTCTCGCT (hg19) chr11:g.128891480_128891483del (hg38) chr11:g.128891480_128891496delinsAGCTGCTCTCGCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128891480_128891483del , CM000673.2:g.128891480_128891483del GRCh38
NC_000011.9:g.128761375_128761378del , CM000673.1:g.128761375_128761378del GRCh37
NC_000011.8:g.128266585_128266588del NCBI36
NG_023406.2:g.5063_5066del , LRG_333:g.5063_5066del

Transcript Alleles

HGVS Amino-acid Change
ENST00000529694.6:c.-252_-249del MANE Select ENSP00000433295.1:n.-252_-249del
ENST00000338350.4:c.-341_-338del ENSP00000339960.4:n.-341_-338del
ENST00000529694.5:c.-252_-249del ENSP00000433295.1:n.-252_-249del
NM_000890.3:c.-252_-249del , LRG_333t1:c.-252_-249del NP_000881.3:n.-252_-249del
NM_000890.4:c.-252_-249del NP_000881.3:n.-252_-249del
NM_001354169.1:c.-341_-338del NP_001341098.1:n.-341_-338del
NM_000890.5:c.-252_-249del MANE Select NP_000881.3:n.-252_-249del
NM_001354169.2:c.-341_-338del NP_001341098.1:n.-341_-338del
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