Canonical Allele Identifier: CA673261781

Gene: KCNJ5

Linked Data

• dbSNP Id: rs1345852196
• gnomAD v3: 11-128891431-CACACACACACAG-C
• gnomAD v4: 11-128891431-CACACACACACAG-C
• MyVariant Identifiers: chr11:g.128761327_128761338del (hg19) ; chr11:g.128891432_128891443del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128891433_128891444del , CM000673.2:g.128891433_128891444del	GRCh38
NC_000011.9:g.128761328_128761339del , CM000673.1:g.128761328_128761339del	GRCh37
NC_000011.8:g.128266538_128266549del	NCBI36
NG_023406.2:g.5016_5027del , LRG_333:g.5016_5027del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529694.6:c.-299_-288del MANE Select	ENSP00000433295.1:n.-299_-288del
ENST00000529694.5:c.-299_-288del	ENSP00000433295.1:n.-299_-288del
NM_000890.3:c.-299_-288del , LRG_333t1:c.-299_-288del	NP_000881.3:n.-299_-288del
NM_000890.4:c.-299_-288del	NP_000881.3:n.-299_-288del
NM_001354169.1:c.-388_-377del	NP_001341098.1:n.-388_-377del
NM_000890.5:c.-299_-288del MANE Select	NP_000881.3:n.-299_-288del
NM_001354169.2:c.-388_-377del	NP_001341098.1:n.-388_-377del