Canonical Allele Identifier: CA2825001549

Gene: AEBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44111606_44111607del , CM000669.2:g.44111606_44111607del	GRCh38
NC_000007.13:g.44151205_44151206del , CM000669.1:g.44151205_44151206del	GRCh37
NC_000007.12:g.44117730_44117731del	NCBI36
NG_056775.1:g.12287_12288del

Transcript Alleles

HGVS	Amino-acid Change
NM_001129.5:c.1816_1817del MANE Select	NP_001120.3:p.Asp606GlnfsTer6
ENST00000223357.8:c.1816_1817del MANE Select	ENSP00000223357.3:p.Asp606GlnfsTer6
NM_001129.4:c.1816_1817del	NP_001120.3:p.Asp606GlnfsTer6
ENST00000223357.7:c.1816_1817del	ENSP00000223357.3:p.Asp606GlnfsTer6
ENST00000413907.1:c.135_136del
ENST00000431035.1:c.100_101del	ENSP00000416568.1:p.Asp34GlnfsTer6
ENST00000434445.1:c.602_603del	ENSP00000397241.1:n.602_603del
ENST00000450684.2:c.541_542del	ENSP00000398878.2:p.Asp181GlnfsTer6
XM_011515162.1:c.1738_1739del	XP_011513464.1:p.Asp580GlnfsTer6