Canonical Allele Identifier: CA943482501

Gene: KCNJ5

Linked Data

• dbSNP Id: rs1944086841
• gnomAD v3: 11-128891447-G-GAA
• gnomAD v4: 11-128891447-G-GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128891448_128891449insAA , CM000673.2:g.128891448_128891449insAA	GRCh38
NC_000011.9:g.128761343_128761344insAA , CM000673.1:g.128761343_128761344insAA	GRCh37
NC_000011.8:g.128266553_128266554insAA	NCBI36
NG_023406.2:g.5031_5032insAA , LRG_333:g.5031_5032insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529694.6:c.-284_-283insAA MANE Select	ENSP00000433295.1:n.-284_-283insAA
ENST00000529694.5:c.-284_-283insAA	ENSP00000433295.1:n.-284_-283insAA
NM_000890.3:c.-284_-283insAA , LRG_333t1:c.-284_-283insAA	NP_000881.3:n.-284_-283insAA
NM_000890.4:c.-284_-283insAA	NP_000881.3:n.-284_-283insAA
NM_001354169.1:c.-373_-372insAA	NP_001341098.1:n.-373_-372insAA
NM_000890.5:c.-284_-283insAA MANE Select	NP_000881.3:n.-284_-283insAA
NM_001354169.2:c.-373_-372insAA	NP_001341098.1:n.-373_-372insAA