Canonical Allele Identifier: CA10630388

Gene: KCNJ5

Linked Data

• ClinVar Variation Id: 303596
• ClinVar RCV Id: RCV000308828 ; RCV000391635
• dbSNP Id: rs886047995
• MyVariant Identifiers: chr11:g.128761332_128761336delinsGAGAGAGAGAGAG (hg19) ; chr11:g.128891437_128891441delinsGAGAGAGAGAGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128891437_128891441delinsGAGAGAGAGAGAG , CM000673.2:g.128891437_128891441delinsGAGAGAGAGAGAG	GRCh38
NC_000011.9:g.128761332_128761336delinsGAGAGAGAGAGAG , CM000673.1:g.128761332_128761336delinsGAGAGAGAGAGAG	GRCh37
NC_000011.8:g.128266542_128266546delinsGAGAGAGAGAGAG	NCBI36
NG_023406.2:g.5020_5024delinsGAGAGAGAGAGAG , LRG_333:g.5020_5024delinsGAGAGAGAGAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529694.6:c.-295_-291delinsGAGAGAGAGAGAG MANE Select	ENSP00000433295.1:n.-295_-291delinsGAGAGAGAGAGAG
ENST00000529694.5:c.-295_-291delinsGAGAGAGAGAGAG	ENSP00000433295.1:n.-295_-291delinsGAGAGAGAGAGAG
NM_000890.3:c.-295_-291delinsGAGAGAGAGAGAG , LRG_333t1:c.-295_-291delinsGAGAGAGAGAGAG	NP_000881.3:n.-295_-291delinsGAGAGAGAGAGAG
NM_000890.4:c.-295_-291delinsGAGAGAGAGAGAG	NP_000881.3:n.-295_-291delinsGAGAGAGAGAGAG
NM_001354169.1:c.-384_-380delinsGAGAGAGAGAGAG	NP_001341098.1:n.-384_-380delinsGAGAGAGAGAGAG
NM_000890.5:c.-295_-291delinsGAGAGAGAGAGAG MANE Select	NP_000881.3:n.-295_-291delinsGAGAGAGAGAGAG
NM_001354169.2:c.-384_-380delinsGAGAGAGAGAGAG	NP_001341098.1:n.-384_-380delinsGAGAGAGAGAGAG