Canonical Allele Identifier: CA602374166

Gene: KCNJ5

Linked Data

• dbSNP Id: rs1350765739
• gnomAD v2: 11-128761370-GATTGTTCCAGCTGCTCTCGCT-G
• gnomAD v3: 11-128891475-GATTGTTCCAGCTGCTCTCGCT-G
• gnomAD v4: 11-128891475-GATTGTTCCAGCTGCTCTCGCT-G
• MyVariant Identifiers: chr11:g.128761371_128761391del (hg19) ; chr11:g.128891476_128891496del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128891477_128891497del , CM000673.2:g.128891477_128891497del	GRCh38
NC_000011.9:g.128761372_128761392del , CM000673.1:g.128761372_128761392del	GRCh37
NC_000011.8:g.128266582_128266602del	NCBI36
NG_023406.2:g.5060_5080del , LRG_333:g.5060_5080del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529694.6:c.-255_-235del MANE Select	ENSP00000433295.1:n.-255_-235del
ENST00000338350.4:c.-344_-324del	ENSP00000339960.4:n.-344_-324del
ENST00000529694.5:c.-255_-235del	ENSP00000433295.1:n.-255_-235del
NM_000890.3:c.-255_-235del , LRG_333t1:c.-255_-235del	NP_000881.3:n.-255_-235del
NM_000890.4:c.-255_-235del	NP_000881.3:n.-255_-235del
NM_001354169.1:c.-344_-324del	NP_001341098.1:n.-344_-324del
NM_000890.5:c.-255_-235del MANE Select	NP_000881.3:n.-255_-235del
NM_001354169.2:c.-344_-324del	NP_001341098.1:n.-344_-324del