Canonical Allele Identifier: CA2580096804
Community Standard Title: NM_004364.5(CEBPA):c.180_183del (p.Ile62ThrfsTer?)
Gene: CEBPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33302233_33302236del , CM000681.2:g.33302233_33302236del GRCh38
NC_000019.9:g.33793139_33793142del , CM000681.1:g.33793139_33793142del GRCh37
NC_000019.8:g.38484979_38484982del NCBI36
NG_012022.1:g.5290_5293del , LRG_456:g.5290_5293del

Transcript Alleles

HGVS Amino-acid Change
NM_004364.5:c.180_183del MANE Select NP_004355.2:p.Ile62ThrfsTer?
ENST00000498907.3:c.180_183del MANE Select ENSP00000427514.1:p.Ile62ThrfsTer?
NM_001285829.1:c.-178_-175del NP_001272758.1:n.-178_-175del
NM_001285829.2:c.-178_-175del NP_001272758.1:n.-178_-175del
NM_001287424.1:c.285_288del NP_001274353.1:p.Ile97ThrfsTer?
NM_001287424.2:c.285_288del NP_001274353.1:p.Ile97ThrfsTer?
NM_001287435.1:c.138_141del NP_001274364.1:p.Ile48ThrfsTer?
NM_001287435.2:c.138_141del NP_001274364.1:p.Ile48ThrfsTer?
NM_004364.4:c.180_183del NP_004355.2:p.Ile62ThrfsTer?
ENST00000498907.2:c.180_183del ENSP00000427514.1:p.Ile62ThrfsTer?