Canonical Allele Identifier: CA602374116

Gene: KCNJ5

Linked Data

• dbSNP Id: rs1335944825
• gnomAD v2: 11-128761322-C-CAGAG
• gnomAD v3: 11-128891427-C-CAGAG
• gnomAD v4: 11-128891427-C-CAGAG
• MyVariant Identifiers: chr11:g.128761324_128761340delinsGAGACACACACACACACAGAG (hg19) ; chr11:g.128761322_128761323insAGAG (hg19) ; chr11:g.128891429_128891445delinsGAGACACACACACACACAGAG (hg38) ; chr11:g.128891427_128891428insAGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128891428_128891429insGAGA , CM000673.2:g.128891428_128891429insGAGA	GRCh38
NC_000011.9:g.128761323_128761324insGAGA , CM000673.1:g.128761323_128761324insGAGA	GRCh37
NC_000011.8:g.128266533_128266534insGAGA	NCBI36
NG_023406.2:g.5011_5012insGAGA , LRG_333:g.5011_5012insGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529694.6:c.-304_-303insGAGA MANE Select	ENSP00000433295.1:n.-304_-303insGAGA
ENST00000529694.5:c.-304_-303insGAGA	ENSP00000433295.1:n.-304_-303insGAGA
NM_000890.3:c.-304_-303insGAGA , LRG_333t1:c.-304_-303insGAGA	NP_000881.3:n.-304_-303insGAGA
NM_000890.4:c.-304_-303insGAGA	NP_000881.3:n.-304_-303insGAGA
NM_001354169.1:c.-393_-392insGAGA	NP_001341098.1:n.-393_-392insGAGA
NM_000890.5:c.-304_-303insGAGA MANE Select	NP_000881.3:n.-304_-303insGAGA
NM_001354169.2:c.-393_-392insGAGA	NP_001341098.1:n.-393_-392insGAGA