Canonical Allele Identifier: CA943430623

Gene: KCNJ5

Linked Data

• dbSNP Id: rs1944580199
• gnomAD v3: 11-128916262-A-ATGGATGGT
• gnomAD v4: 11-128916262-A-ATGGATGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128916269_128916270insTTGGATGG , CM000673.2:g.128916269_128916270insTTGGATGG	GRCh38
NC_000011.9:g.128786164_128786165insTTGGATGG , CM000673.1:g.128786164_128786165insTTGGATGG	GRCh37
NC_000011.8:g.128291374_128291375insTTGGATGG	NCBI36
NG_023406.2:g.29852_29853insTTGGATGG , LRG_333:g.29852_29853insTTGGATGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529694.6:c.938-140_938-139insTTGGATGG MANE Select	ENSP00000433295.1:n.938-140_938-139insTTGGATGG
ENST00000338350.4:c.938-140_938-139insTTGGATGG	ENSP00000339960.4:n.938-140_938-139insTTGGATGG
ENST00000529694.5:c.938-140_938-139insTTGGATGG	ENSP00000433295.1:n.938-140_938-139insTTGGATGG
ENST00000533599.1:c.938-140_938-139insTTGGATGG	ENSP00000434266.1:n.938-140_938-139insTTGGATGG
NM_000890.3:c.938-140_938-139insTTGGATGG , LRG_333t1:c.938-140_938-139insTTGGATGG	NP_000881.3:n.938-140_938-139insTTGGATGG
XM_011542809.1:c.938-140_938-139insTTGGATGG	XP_011541111.1:n.938-140_938-139insTTGGATGG
XM_011542810.1:c.938-140_938-139insTTGGATGG	XP_011541112.1:n.938-140_938-139insTTGGATGG
NM_000890.4:c.938-140_938-139insTTGGATGG	NP_000881.3:n.938-140_938-139insTTGGATGG
NM_001354169.1:c.938-140_938-139insTTGGATGG	NP_001341098.1:n.938-140_938-139insTTGGATGG
XM_011542809.2:c.938-140_938-139insTTGGATGG	XP_011541111.1:n.938-140_938-139insTTGGATGG
XM_011542810.3:c.938-140_938-139insTTGGATGG	XP_011541112.1:n.938-140_938-139insTTGGATGG
NM_000890.5:c.938-140_938-139insTTGGATGG MANE Select	NP_000881.3:n.938-140_938-139insTTGGATGG
NM_001354169.2:c.938-140_938-139insTTGGATGG	NP_001341098.1:n.938-140_938-139insTTGGATGG