Canonical Allele Identifier: CA230641381

Gene: KCNJ5

Linked Data

• ClinVar Variation Id: 1203113
• ClinVar RCV Id: RCV001569036
• dbSNP Id: rs201935642
• gnomAD v2: 11-128786093-T-TTGGA
• gnomAD v3: 11-128916198-T-TTGGA
• gnomAD v4: 11-128916198-T-TTGGA
• MyVariant Identifiers: chr11:g.128786101_128786102insTGGA (hg19) ; chr11:g.128786093_128786094insTGGA (hg19) ; chr11:g.128916206_128916207insTGGA (hg38) ; chr11:g.128916198_128916199insTGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128916222_128916225dup , CM000673.2:g.128916222_128916225dup	GRCh38
NC_000011.9:g.128786117_128786120dup , CM000673.1:g.128786117_128786120dup	GRCh37
NC_000011.8:g.128291327_128291330dup	NCBI36
NG_023406.2:g.29805_29808dup , LRG_333:g.29805_29808dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529694.6:c.938-187_938-184dup MANE Select	ENSP00000433295.1:n.938-187_938-184dup
ENST00000338350.4:c.938-187_938-184dup	ENSP00000339960.4:n.938-187_938-184dup
ENST00000529694.5:c.938-187_938-184dup	ENSP00000433295.1:n.938-187_938-184dup
ENST00000533599.1:c.938-187_938-184dup	ENSP00000434266.1:n.938-187_938-184dup
NM_000890.3:c.938-187_938-184dup , LRG_333t1:c.938-187_938-184dup	NP_000881.3:n.938-187_938-184dup
XM_011542809.1:c.938-187_938-184dup	XP_011541111.1:n.938-187_938-184dup
XM_011542810.1:c.938-187_938-184dup	XP_011541112.1:n.938-187_938-184dup
NM_000890.4:c.938-187_938-184dup	NP_000881.3:n.938-187_938-184dup
NM_001354169.1:c.938-187_938-184dup	NP_001341098.1:n.938-187_938-184dup
XM_011542809.2:c.938-187_938-184dup	XP_011541111.1:n.938-187_938-184dup
XM_011542810.3:c.938-187_938-184dup	XP_011541112.1:n.938-187_938-184dup
NM_000890.5:c.938-187_938-184dup MANE Select	NP_000881.3:n.938-187_938-184dup
NM_001354169.2:c.938-187_938-184dup	NP_001341098.1:n.938-187_938-184dup