Canonical Allele Identifier: CA602377618
Gene: KCNJ5 HGNC NCBI

Linked Data

gnomAD v2: 11-128785924-AATGGATGGATGGATGGATGGCTATATCTTTGCCCTTTCCTGCCTTTTTTTCCATATCTGGATGGATAGATAATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATATATCTTTGCCCTTTCCTGCCTTTTTTTCCATATCTGGATGGATGGATGGTTGGATGG-A
gnomAD v3: 11-128916029-AATGGATGGATGGATGGATGGCTATATCTTTGCCCTTTCCTGCCTTTTTTTCCATATCTGGATGGATAGATAATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATATATCTTTGCCCTTTCCTGCCTTTTTTTCCATATCTGGATGGATGGATGGTTGGATGG-A
gnomAD v4: 11-128916029-AATGGATGGATGGATGGATGGCTATATCTTTGCCCTTTCCTGCCTTTTTTTCCATATCTGGATGGATAGATAATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATATATCTTTGCCCTTTCCTGCCTTTTTTTCCATATCTGGATGGATGGATGGTTGGATGG-A
MyVariant Identifiers: chr11:g.128785925_128786100del (hg19) chr11:g.128916030_128916205del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128916050_128916225del , CM000673.2:g.128916050_128916225del GRCh38
NC_000011.9:g.128785945_128786120del , CM000673.1:g.128785945_128786120del GRCh37
NC_000011.8:g.128291155_128291330del NCBI36
NG_023406.2:g.29633_29808del , LRG_333:g.29633_29808del

Transcript Alleles

HGVS Amino-acid Change
ENST00000529694.6:c.938-359_938-184del MANE Select ENSP00000433295.1:n.938-359_938-184del
ENST00000338350.4:c.938-359_938-184del ENSP00000339960.4:n.938-359_938-184del
ENST00000529694.5:c.938-359_938-184del ENSP00000433295.1:n.938-359_938-184del
ENST00000533599.1:c.938-359_938-184del ENSP00000434266.1:n.938-359_938-184del
NM_000890.3:c.938-359_938-184del , LRG_333t1:c.938-359_938-184del NP_000881.3:n.938-359_938-184del
XM_011542809.1:c.938-359_938-184del XP_011541111.1:n.938-359_938-184del
XM_011542810.1:c.938-359_938-184del XP_011541112.1:n.938-359_938-184del
NM_000890.4:c.938-359_938-184del NP_000881.3:n.938-359_938-184del
NM_001354169.1:c.938-359_938-184del NP_001341098.1:n.938-359_938-184del
XM_011542809.2:c.938-359_938-184del XP_011541111.1:n.938-359_938-184del
XM_011542810.3:c.938-359_938-184del XP_011541112.1:n.938-359_938-184del
NM_000890.5:c.938-359_938-184del MANE Select NP_000881.3:n.938-359_938-184del
NM_001354169.2:c.938-359_938-184del NP_001341098.1:n.938-359_938-184del
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