Canonical Allele Identifier: CA2580096799
Gene: CEBPA HGNC NCBI

Linked Data

ClinVar Variation Id: 1343787
ClinVar RCV Id: RCV002282592

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33302123del , CM000681.2:g.33302123del GRCh38
NC_000019.9:g.33793029del , CM000681.1:g.33793029del GRCh37
NC_000019.8:g.38484869del NCBI36
NG_012022.1:g.5402del , LRG_456:g.5402del

Transcript Alleles

HGVS Amino-acid Change
ENST00000498907.3:c.292del MANE Select ENSP00000427514.1:p.Thr98ArgfsTer?
ENST00000498907.2:c.292del ENSP00000427514.1:p.Thr98ArgfsTer?
NM_001285829.1:c.-66del NP_001272758.1:n.-66del
NM_001287424.1:c.397del NP_001274353.1:p.Thr133ArgfsTer?
NM_001287435.1:c.250del NP_001274364.1:p.Thr84ArgfsTer?
NM_004364.4:c.292del NP_004355.2:p.Thr98ArgfsTer?
NM_001287424.2:c.397del NP_001274353.1:p.Thr133ArgfsTer?
NM_004364.5:c.292del MANE Select NP_004355.2:p.Thr98ArgfsTer?
NM_001285829.2:c.-66del NP_001272758.1:n.-66del
NM_001287435.2:c.250del NP_001274364.1:p.Thr84ArgfsTer?