Canonical Allele Identifier: CA943430777

Gene: KCNJ5

Linked Data

• dbSNP Id: rs1240984003
• gnomAD v3: 11-128916333-GATGGATGA-G
• gnomAD v4: 11-128916333-GATGGATGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128916349_128916356del , CM000673.2:g.128916349_128916356del	GRCh38
NC_000011.9:g.128786244_128786251del , CM000673.1:g.128786244_128786251del	GRCh37
NC_000011.8:g.128291454_128291461del	NCBI36
NG_023406.2:g.29932_29939del , LRG_333:g.29932_29939del

Transcript Alleles

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