Canonical Allele Identifier: CA2008253080

Gene: KCNJ5

Linked Data

• dbSNP Id: rs1944095229
• gnomAD v3: 11-128891737-TTCC-T
• gnomAD v4: 11-128891737-TTCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128891744_128891746del , CM000673.2:g.128891744_128891746del	GRCh38
NC_000011.9:g.128761639_128761641del , CM000673.1:g.128761639_128761641del	GRCh37
NC_000011.8:g.128266849_128266851del	NCBI36
NG_023406.2:g.5327_5329del , LRG_333:g.5327_5329del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529694.6:c.-11+23_-11+25del MANE Select	ENSP00000433295.1:n.-11+23_-11+25del
ENST00000338350.4:c.-100+23_-100+25del	ENSP00000339960.4:n.-100+23_-100+25del
ENST00000529694.5:c.-11+23_-11+25del	ENSP00000433295.1:n.-11+23_-11+25del
NM_000890.3:c.-11+23_-11+25del , LRG_333t1:c.-11+23_-11+25del	NP_000881.3:n.-11+23_-11+25del
NM_000890.4:c.-11+23_-11+25del	NP_000881.3:n.-11+23_-11+25del
NM_001354169.1:c.-100+23_-100+25del	NP_001341098.1:n.-100+23_-100+25del
NM_000890.5:c.-11+23_-11+25del MANE Select	NP_000881.3:n.-11+23_-11+25del
NM_001354169.2:c.-100+23_-100+25del	NP_001341098.1:n.-100+23_-100+25del