Canonical Allele Identifier: CA10638486

Gene: KCNJ5

Linked Data

• ClinVar Variation Id: 303603
• ClinVar RCV Id: RCV000293255 ; RCV000389689
• dbSNP Id: rs886047998
• MyVariant Identifiers: chr11:g.128761334_128761336delinsGAGAGAGAG (hg19) ; chr11:g.128891439_128891441delinsGAGAGAGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128891439_128891441delinsGAGAGAGAG , CM000673.2:g.128891439_128891441delinsGAGAGAGAG	GRCh38
NC_000011.9:g.128761334_128761336delinsGAGAGAGAG , CM000673.1:g.128761334_128761336delinsGAGAGAGAG	GRCh37
NC_000011.8:g.128266544_128266546delinsGAGAGAGAG	NCBI36
NG_023406.2:g.5022_5024delinsGAGAGAGAG , LRG_333:g.5022_5024delinsGAGAGAGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000529694.6:c.-293_-291delinsGAGAGAGAG MANE Select	ENSP00000433295.1:n.-293_-291delinsGAGAGA...
ENST00000529694.5:c.-293_-291delinsGAGAGAGAG	ENSP00000433295.1:n.-293_-291delinsGAGAGA...
NM_000890.3:c.-293_-291delinsGAGAGAGAG , LRG_333t1:c.-293_-291delinsGAGAGAGAG	NP_000881.3:n.-293_-291delinsGAGAGAGAG
NM_000890.4:c.-293_-291delinsGAGAGAGAG	NP_000881.3:n.-293_-291delinsGAGAGAGAG
NM_001354169.1:c.-382_-380delinsGAGAGAGAG	NP_001341098.1:n.-382_-380delinsGAGAGAGAG...
NM_000890.5:c.-293_-291delinsGAGAGAGAG MANE Select	NP_000881.3:n.-293_-291delinsGAGAGAGAG
NM_001354169.2:c.-382_-380delinsGAGAGAGAG	NP_001341098.1:n.-382_-380delinsGAGAGAGAG...