Canonical Allele Identifier: CA341467
Gene: CEBPA HGNC NCBI

Linked Data

ClinVar Variation Id: 17572
ClinVar RCV Id: RCV000019132
dbSNP Id: rs137852728

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33302352del , CM000681.2:g.33302352del GRCh38
NC_000019.9:g.33793258del , CM000681.1:g.33793258del GRCh37
NC_000019.8:g.38485098del NCBI36
NG_012022.1:g.5178del , LRG_456:g.5178del

Transcript Alleles

HGVS Amino-acid change
ENST00000498907.3:c.68del MANE Select ENSP00000427514.1:p.Pro23ArgfsTer?
ENST00000498907.2:c.68del ENSP00000427514.1:p.Pro23ArgfsTer?
NM_001285829.1:c.-290del NP_001272758.1:n.-290del
NM_001287424.1:c.173del NP_001274353.1:p.Pro58ArgfsTer?
NM_001287435.1:c.26del NP_001274364.1:p.Pro9ArgfsTer?
NM_004364.4:c.68del NP_004355.2:p.Pro23ArgfsTer?
NM_001287424.2:c.173del NP_001274353.1:p.Pro58ArgfsTer?
NM_004364.5:c.68del MANE Select NP_004355.2:p.Pro23ArgfsTer?
NM_001285829.2:c.-290del NP_001272758.1:n.-290del
NM_001287435.2:c.26del NP_001274364.1:p.Pro9ArgfsTer?