Canonical Allele Identifier: CA673262249

Gene: KCNJ5

Linked Data

• dbSNP Id: rs71057905
• gnomAD v4: 11-128891441-CAGAGAGAGAGAGAG-C
• MyVariant Identifiers: chr11:g.128761337_128761350del (hg19) ; chr11:g.128891442_128891455del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128891463_128891476del , CM000673.2:g.128891463_128891476del	GRCh38
NC_000011.9:g.128761358_128761371del , CM000673.1:g.128761358_128761371del	GRCh37
NC_000011.8:g.128266568_128266581del	NCBI36
NG_023406.2:g.5046_5059del , LRG_333:g.5046_5059del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529694.6:c.-269_-256del MANE Select	ENSP00000433295.1:n.-269_-256del
ENST00000529694.5:c.-269_-256del	ENSP00000433295.1:n.-269_-256del
NM_000890.3:c.-269_-256del , LRG_333t1:c.-269_-256del	NP_000881.3:n.-269_-256del
NM_000890.4:c.-269_-256del	NP_000881.3:n.-269_-256del
NM_001354169.1:c.-358_-345del	NP_001341098.1:n.-358_-345del
NM_000890.5:c.-269_-256del MANE Select	NP_000881.3:n.-269_-256del
NM_001354169.2:c.-358_-345del	NP_001341098.1:n.-358_-345del