Canonical Allele Identifier: CA602374538

Gene: KCNJ5

Linked Data

• dbSNP Id: rs1192022714
• gnomAD v2: 11-128761701-CTG-C
• gnomAD v3: 11-128891806-CTG-C
• gnomAD v4: 11-128891806-CTG-C
• MyVariant Identifiers: chr11:g.128761702_128761703del (hg19) ; chr11:g.128891807_128891808del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128891807_128891808del , CM000673.2:g.128891807_128891808del	GRCh38
NC_000011.9:g.128761702_128761703del , CM000673.1:g.128761702_128761703del	GRCh37
NC_000011.8:g.128266912_128266913del	NCBI36
NG_023406.2:g.5390_5391del , LRG_333:g.5390_5391del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529694.6:c.-11+86_-11+87del MANE Select	ENSP00000433295.1:n.-11+86_-11+87del
ENST00000338350.4:c.-100+86_-100+87del	ENSP00000339960.4:n.-100+86_-100+87del
ENST00000529694.5:c.-11+86_-11+87del	ENSP00000433295.1:n.-11+86_-11+87del
NM_000890.3:c.-11+86_-11+87del , LRG_333t1:c.-11+86_-11+87del	NP_000881.3:n.-11+86_-11+87del
NM_000890.4:c.-11+86_-11+87del	NP_000881.3:n.-11+86_-11+87del
NM_001354169.1:c.-100+86_-100+87del	NP_001341098.1:n.-100+86_-100+87del
NM_000890.5:c.-11+86_-11+87del MANE Select	NP_000881.3:n.-11+86_-11+87del
NM_001354169.2:c.-100+86_-100+87del	NP_001341098.1:n.-100+86_-100+87del