Canonical Allele Identifier: CA633069973

Gene: CEBPA

Linked Data

• ClinVar Variation Id: 1007268
• ClinVar RCV Id: RCV001304420
• dbSNP Id: rs1346240180
• gnomAD v2: 19-33793157-ATGCCGCCCAGCGGCTCCGGGGCGGCAGGTG-A
• gnomAD v3: 19-33302251-ATGCCGCCCAGCGGCTCCGGGGCGGCAGGTG-A
• gnomAD v4: 19-33302251-ATGCCGCCCAGCGGCTCCGGGGCGGCAGGTG-A
• MyVariant Identifiers: chr19:g.33793158_33793187del (hg19) ; chr19:g.33302252_33302281del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33302252_33302281del , CM000681.2:g.33302252_33302281del	GRCh38
NC_000019.9:g.33793158_33793187del , CM000681.1:g.33793158_33793187del	GRCh37
NC_000019.8:g.38484998_38485027del	NCBI36
NG_012022.1:g.5244_5273del , LRG_456:g.5244_5273del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000498907.3:c.134_163del MANE Select	ENSP00000427514.1:p.Pro45_Ile55delinsLeu
ENST00000498907.2:c.134_163del	ENSP00000427514.1:p.Pro45_Ile55delinsLeu
NM_001285829.1:c.-224_-195del	NP_001272758.1:n.-224_-195del
NM_001287424.1:c.239_268del	NP_001274353.1:p.Pro80_Ile90delinsLeu
NM_001287435.1:c.92_121del	NP_001274364.1:p.Pro31_Ile41delinsLeu
NM_004364.4:c.134_163del	NP_004355.2:p.Pro45_Ile55delinsLeu
NM_001287424.2:c.239_268del	NP_001274353.1:p.Pro80_Ile90delinsLeu
NM_004364.5:c.134_163del MANE Select	NP_004355.2:p.Pro45_Ile55delinsLeu
NM_001285829.2:c.-224_-195del	NP_001272758.1:n.-224_-195del
NM_001287435.2:c.92_121del	NP_001274364.1:p.Pro31_Ile41delinsLeu