Canonical Allele Identifier: CA602374134

Gene: KCNJ5

Linked Data

• dbSNP Id: rs886047994
• gnomAD v2: 11-128761330-C-CAGAGAGAGAG
• gnomAD v3: 11-128891435-C-CAGAGAGAGAG
• gnomAD v4: 11-128891435-C-CAGAGAGAGAG
• MyVariant Identifiers: chr11:g.128761332_128761338delinsGAGAGAGAGACACACAG (hg19) ; chr11:g.128761330_128761331insAGAGAGAGAG (hg19) ; chr11:g.128891437_128891443delinsGAGAGAGAGACACACAG (hg38) ; chr11:g.128891435_128891436insAGAGAGAGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128891436_128891437insGAGAGAGAGA , CM000673.2:g.128891436_128891437insGAGAGAGAGA	GRCh38
NC_000011.9:g.128761331_128761332insGAGAGAGAGA , CM000673.1:g.128761331_128761332insGAGAGAGAGA	GRCh37
NC_000011.8:g.128266541_128266542insGAGAGAGAGA	NCBI36
NG_023406.2:g.5019_5020insGAGAGAGAGA , LRG_333:g.5019_5020insGAGAGAGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529694.6:c.-296_-295insGAGAGAGAGA MANE Select	ENSP00000433295.1:n.-296_-295insGAGAGAGAGA
ENST00000529694.5:c.-296_-295insGAGAGAGAGA	ENSP00000433295.1:n.-296_-295insGAGAGAGAGA
NM_000890.3:c.-296_-295insGAGAGAGAGA , LRG_333t1:c.-296_-295insGAGAGAGAGA	NP_000881.3:n.-296_-295insGAGAGAGAGA
NM_000890.4:c.-296_-295insGAGAGAGAGA	NP_000881.3:n.-296_-295insGAGAGAGAGA
NM_001354169.1:c.-385_-384insGAGAGAGAGA	NP_001341098.1:n.-385_-384insGAGAGAGAGA
NM_000890.5:c.-296_-295insGAGAGAGAGA MANE Select	NP_000881.3:n.-296_-295insGAGAGAGAGA
NM_001354169.2:c.-385_-384insGAGAGAGAGA	NP_001341098.1:n.-385_-384insGAGAGAGAGA