Canonical Allele Identifier: CA602374164
Gene: KCNJ5 HGNC NCBI

Linked Data

dbSNP Id: rs1491061778
gnomAD v2: 11-128761370-GAT-G
gnomAD v3: 11-128891475-GAT-G
gnomAD v4: 11-128891475-GAT-G
MyVariant Identifiers: chr11:g.128761371_128761372del (hg19) chr11:g.128761371_128761391delinsTGTTCCAGCTGCTCTCGCT (hg19) chr11:g.128891476_128891477del (hg38) chr11:g.128891476_128891496delinsTGTTCCAGCTGCTCTCGCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128891476_128891477del , CM000673.2:g.128891476_128891477del GRCh38
NC_000011.9:g.128761371_128761372del , CM000673.1:g.128761371_128761372del GRCh37
NC_000011.8:g.128266581_128266582del NCBI36
NG_023406.2:g.5059_5060del , LRG_333:g.5059_5060del

Transcript Alleles

HGVS Amino-acid Change
ENST00000529694.6:c.-256_-255del MANE Select ENSP00000433295.1:n.-256_-255del
ENST00000338350.4:c.-345_-344del ENSP00000339960.4:n.-345_-344del
ENST00000529694.5:c.-256_-255del ENSP00000433295.1:n.-256_-255del
NM_000890.3:c.-256_-255del , LRG_333t1:c.-256_-255del NP_000881.3:n.-256_-255del
NM_000890.4:c.-256_-255del NP_000881.3:n.-256_-255del
NM_001354169.1:c.-345_-344del NP_001341098.1:n.-345_-344del
NM_000890.5:c.-256_-255del MANE Select NP_000881.3:n.-256_-255del
NM_001354169.2:c.-345_-344del NP_001341098.1:n.-345_-344del
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