Canonical Allele Identifier: CA673261862

Gene: KCNJ5

Linked Data

• dbSNP Id: rs1362438757
• gnomAD v3: 11-128891435-CACACACAGAG-C
• gnomAD v4: 11-128891435-CACACACAGAG-C
• MyVariant Identifiers: chr11:g.128761331_128761340del (hg19) ; chr11:g.128891436_128891445del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128891437_128891446del , CM000673.2:g.128891437_128891446del	GRCh38
NC_000011.9:g.128761332_128761341del , CM000673.1:g.128761332_128761341del	GRCh37
NC_000011.8:g.128266542_128266551del	NCBI36
NG_023406.2:g.5020_5029del , LRG_333:g.5020_5029del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529694.6:c.-295_-286del MANE Select	ENSP00000433295.1:n.-295_-286del
ENST00000529694.5:c.-295_-286del	ENSP00000433295.1:n.-295_-286del
NM_000890.3:c.-295_-286del , LRG_333t1:c.-295_-286del	NP_000881.3:n.-295_-286del
NM_000890.4:c.-295_-286del	NP_000881.3:n.-295_-286del
NM_001354169.1:c.-384_-375del	NP_001341098.1:n.-384_-375del
NM_000890.5:c.-295_-286del MANE Select	NP_000881.3:n.-295_-286del
NM_001354169.2:c.-384_-375del	NP_001341098.1:n.-384_-375del