Canonical Allele Identifier: CA2580096787

Gene: CEBPA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33301336_33301346del , CM000681.2:g.33301336_33301346del	GRCh38
NC_000019.9:g.33792242_33792252del , CM000681.1:g.33792242_33792252del	GRCh37
NC_000019.8:g.38484082_38484092del	NCBI36
NG_012022.1:g.6179_6189del , LRG_456:g.6179_6189del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000498907.3:c.1069_*2del MANE Select	ENSP00000427514.1:n.[c.1069_*2del;Cys357ArgfsTer?]
ENST00000498907.2:c.1069_*2del	ENSP00000427514.1:n.[c.1069_*2del;Cys357ArgfsTer?]
NM_001285829.1:c.712_*2del	NP_001272758.1:n.[c.712_*2del;Cys238ArgfsTer?]
NM_001287424.1:c.1174_*2del	NP_001274353.1:n.[c.1174_*2del;Cys392ArgfsTer?]
NM_001287435.1:c.1027_*2del	NP_001274364.1:n.[c.1027_*2del;Cys343ArgfsTer?]
NM_004364.4:c.1069_*2del	NP_004355.2:n.[c.1069_*2del;Cys357ArgfsTer?]
NM_001287424.2:c.1174_*2del	NP_001274353.1:n.[c.1174_*2del;Cys392ArgfsTer?]
NM_004364.5:c.1069_*2del MANE Select	NP_004355.2:n.[c.1069_*2del;Cys357ArgfsTer?]
NM_001285829.2:c.712_*2del	NP_001272758.1:n.[c.712_*2del;Cys238ArgfsTer?]
NM_001287435.2:c.1027_*2del	NP_001274364.1:n.[c.1027_*2del;Cys343ArgfsTer?]