Canonical Allele Identifier: CA2573156217

Gene: CEBPA

Linked Data

• ClinVar Variation Id: 1377034
• ClinVar RCV Id: RCV001889813
• dbSNP Id: rs2145262280
• gnomAD v4: 19-33302000-G-GGTAGCCGGCGGCCGCGCAGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33302009_33302029dup , CM000681.2:g.33302009_33302029dup	GRCh38
NC_000019.9:g.33792915_33792935dup , CM000681.1:g.33792915_33792935dup	GRCh37
NC_000019.8:g.38484755_38484775dup	NCBI36
NG_012022.1:g.5504_5524dup , LRG_456:g.5504_5524dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000498907.3:c.394_414dup MANE Select	ENSP00000427514.1:p.Tyr138_Leu139insGlyCysAlaAlaAlaGlyTyr
ENST00000498907.2:c.394_414dup	ENSP00000427514.1:p.Tyr138_Leu139insGlyCysAlaAlaAlaGlyTyr
NM_001285829.1:c.37_57dup	NP_001272758.1:p.Tyr19_Leu20insGlyCysAlaAlaAlaGlyTyr
NM_001287424.1:c.499_519dup	NP_001274353.1:p.Tyr173_Leu174insGlyCysAlaAlaAlaGlyTyr
NM_001287435.1:c.352_372dup	NP_001274364.1:p.Tyr124_Leu125insGlyCysAlaAlaAlaGlyTyr
NM_004364.4:c.394_414dup	NP_004355.2:p.Tyr138_Leu139insGlyCysAlaAlaAlaGlyTyr
NM_001287424.2:c.499_519dup	NP_001274353.1:p.Tyr173_Leu174insGlyCysAlaAlaAlaGlyTyr
NM_004364.5:c.394_414dup MANE Select	NP_004355.2:p.Tyr138_Leu139insGlyCysAlaAlaAlaGlyTyr
NM_001285829.2:c.37_57dup	NP_001272758.1:p.Tyr19_Leu20insGlyCysAlaAlaAlaGlyTyr
NM_001287435.2:c.352_372dup	NP_001274364.1:p.Tyr124_Leu125insGlyCysAlaAlaAlaGlyTyr