Canonical Allele Identifier: CA658795201
Gene: CEBPA HGNC NCBI

Linked Data

ClinVar Variation Id: 1325884
ClinVar RCV Id: RCV001785421
dbSNP Id: rs2145264004

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33302251_33302269del , CM000681.2:g.33302251_33302269del GRCh38
NC_000019.9:g.33793157_33793175del , CM000681.1:g.33793157_33793175del GRCh37
NC_000019.8:g.38484997_38485015del NCBI36
NG_012022.1:g.5257_5275del , LRG_456:g.5257_5275del

Transcript Alleles

HGVS Amino-acid Change
ENST00000498907.3:c.147_165del MANE Select ENSP00000427514.1:p.Glu50AlafsTer?
ENST00000498907.2:c.147_165del ENSP00000427514.1:p.Glu50AlafsTer?
NM_001285829.1:c.-211_-193del NP_001272758.1:n.-211_-193del
NM_001287424.1:c.252_270del NP_001274353.1:p.Glu85AlafsTer?
NM_001287435.1:c.105_123del NP_001274364.1:p.Glu36AlafsTer?
NM_004364.4:c.147_165del NP_004355.2:p.Glu50AlafsTer?
NM_001287424.2:c.252_270del NP_001274353.1:p.Glu85AlafsTer?
NM_004364.5:c.147_165del MANE Select NP_004355.2:p.Glu50AlafsTer?
NM_001285829.2:c.-211_-193del NP_001272758.1:n.-211_-193del
NM_001287435.2:c.105_123del NP_001274364.1:p.Glu36AlafsTer?