Canonical Allele Identifier: CA673278351

Gene: KCNJ5

Linked Data

• dbSNP Id: rs1240984003
• gnomAD v3: 11-128916333-G-GATGGATGA
• gnomAD v4: 11-128916333-G-GATGGATGA
• MyVariant Identifiers: chr11:g.128786228_128786229insATGGATGA (hg19) ; chr11:g.128916333_128916334insATGGATGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128916349_128916356dup , CM000673.2:g.128916349_128916356dup	GRCh38
NC_000011.9:g.128786244_128786251dup , CM000673.1:g.128786244_128786251dup	GRCh37
NC_000011.8:g.128291454_128291461dup	NCBI36
NG_023406.2:g.29932_29939dup , LRG_333:g.29932_29939dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529694.6:c.938-60_938-53dup MANE Select	ENSP00000433295.1:n.938-60_938-53dup
ENST00000338350.4:c.938-60_938-53dup	ENSP00000339960.4:n.938-60_938-53dup
ENST00000529694.5:c.938-60_938-53dup	ENSP00000433295.1:n.938-60_938-53dup
ENST00000533599.1:c.938-60_938-53dup	ENSP00000434266.1:n.938-60_938-53dup
NM_000890.3:c.938-60_938-53dup , LRG_333t1:c.938-60_938-53dup	NP_000881.3:n.938-60_938-53dup
XM_011542809.1:c.938-60_938-53dup	XP_011541111.1:n.938-60_938-53dup
XM_011542810.1:c.938-60_938-53dup	XP_011541112.1:n.938-60_938-53dup
NM_000890.4:c.938-60_938-53dup	NP_000881.3:n.938-60_938-53dup
NM_001354169.1:c.938-60_938-53dup	NP_001341098.1:n.938-60_938-53dup
XM_011542809.2:c.938-60_938-53dup	XP_011541111.1:n.938-60_938-53dup
XM_011542810.3:c.938-60_938-53dup	XP_011541112.1:n.938-60_938-53dup
NM_000890.5:c.938-60_938-53dup MANE Select	NP_000881.3:n.938-60_938-53dup
NM_001354169.2:c.938-60_938-53dup	NP_001341098.1:n.938-60_938-53dup