Canonical Allele Identifier: CA2794084729
Gene: KCNJ5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128891765_128891831del , CM000673.2:g.128891765_128891831del GRCh38
NC_000011.9:g.128761660_128761726del , CM000673.1:g.128761660_128761726del GRCh37
NC_000011.8:g.128266870_128266936del NCBI36
NG_023406.2:g.5348_5414del , LRG_333:g.5348_5414del

Transcript Alleles

HGVS Amino-acid Change
ENST00000529694.6:c.-11+44_-11+110del MANE Select ENSP00000433295.1:n.-11+44_-11+110del
ENST00000338350.4:c.-100+44_-100+110del ENSP00000339960.4:n.-100+44_-100+110del
ENST00000529694.5:c.-11+44_-11+110del ENSP00000433295.1:n.-11+44_-11+110del
NM_000890.3:c.-11+44_-11+110del , LRG_333t1:c.-11+44_-11+110del NP_000881.3:n.-11+44_-11+110del
NM_000890.4:c.-11+44_-11+110del NP_000881.3:n.-11+44_-11+110del
NM_001354169.1:c.-100+44_-100+110del NP_001341098.1:n.-100+44_-100+110del
NM_000890.5:c.-11+44_-11+110del MANE Select NP_000881.3:n.-11+44_-11+110del
NM_001354169.2:c.-100+44_-100+110del NP_001341098.1:n.-100+44_-100+110del