Canonical Allele Identifier: CA2499225435
Gene: CEBPA HGNC NCBI

Linked Data

ClinVar Variation Id: 1067813
ClinVar RCV Id: RCV001379181
dbSNP Id: rs2145264820

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33302355dup , CM000681.2:g.33302355dup GRCh38
NC_000019.9:g.33793261dup , CM000681.1:g.33793261dup GRCh37
NC_000019.8:g.38485101dup NCBI36
NG_012022.1:g.5170dup , LRG_456:g.5170dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000498907.3:c.60dup MANE Select ENSP00000427514.1:p.Ser21GlufsTer?
ENST00000498907.2:c.60dup ENSP00000427514.1:p.Ser21GlufsTer?
NM_001285829.1:c.-298dup NP_001272758.1:n.-298dup
NM_001287424.1:c.165dup NP_001274353.1:p.Ser56GlufsTer?
NM_001287435.1:c.18dup NP_001274364.1:p.Ser7GlufsTer?
NM_004364.4:c.60dup NP_004355.2:p.Ser21GlufsTer?
NM_001287424.2:c.165dup NP_001274353.1:p.Ser56GlufsTer?
NM_004364.5:c.60dup MANE Select NP_004355.2:p.Ser21GlufsTer?
NM_001285829.2:c.-298dup NP_001272758.1:n.-298dup
NM_001287435.2:c.18dup NP_001274364.1:p.Ser7GlufsTer?