Canonical Allele Identifier: CA2695234271

Gene: EBP

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527198del , CM000685.2:g.48527198del	GRCh38
NC_000023.10:g.48385586del , CM000685.1:g.48385586del	GRCh37
NC_000023.9:g.48270530del	NCBI36
NG_007452.1:g.10423del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.382del MANE Select	ENSP00000417052.1:p.Leu128CysfsTer10
ENST00000651615.1:c.382del	ENSP00000498524.1:p.Leu128CysfsTer10
ENST00000276096.10:n.340del
ENST00000414061.1:c.382del	ENSP00000405832.1:p.Leu128CysfsTer10
ENST00000446158.5:c.382del	ENSP00000390031.1:p.Leu128CysfsTer10
ENST00000466461.1:n.221del
ENST00000495186.5:c.382del	ENSP00000417052.1:p.Leu128CysfsTer10
ENST00000498425.1:n.503del
NM_006579.2:c.382del	NP_006570.1:p.Leu128CysfsTer10
NM_006579.3:c.382del MANE Select	NP_006570.1:p.Leu128CysfsTer10