Canonical Allele Identifier: CA2306909766

Gene: CCBE1

Linked Data

• dbSNP Id: rs1910242736

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59438114del , CM000680.2:g.59438114del	GRCh38
NC_000018.9:g.57105346del , CM000680.1:g.57105346del	GRCh37
NC_000018.8:g.55256326del	NCBI36
NG_016990.1:g.264299del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.987del
ENST00000650467.2:c.762del	ENSP00000496897.2:p.Pro255GlnfsTer?
ENST00000695903.1:c.1097del	ENSP00000512255.1:p.Leu366ProfsTer4
ENST00000695904.1:c.1097del	ENSP00000512259.1:p.Leu366ProfsTer16
ENST00000439986.9:c.984del MANE Select	ENSP00000404464.2:p.Pro329GlnfsTer?
ENST00000589116.2:n.692del
ENST00000649564.1:c.984del	ENSP00000497183.1:p.Pro329GlnfsTer?
ENST00000650467.1:c.640del
ENST00000398179.3:c.774del	ENSP00000381241.3:p.Pro259GlnfsTer?
ENST00000439986.8:c.984del	ENSP00000404464.2:p.Pro329GlnfsTer?
ENST00000589116.1:n.692del
NM_133459.3:c.984del	NP_597716.1:p.Pro329GlnfsTer?
XM_005266648.2:c.984del	XP_005266705.1:p.Pro329GlnfsTer?
NM_133459.4:c.984del MANE Select	NP_597716.1:p.Pro329GlnfsTer?
XM_017025556.1:c.1097del	XP_016881045.1:p.Leu366ProfsTer16
XM_017025557.1:c.1097del	XP_016881046.1:p.Leu366ProfsTer16
XM_017025558.1:c.984del	XP_016881047.1:p.Pro329GlnfsTer2
XM_024451091.1:c.984del	XP_024306859.1:p.Pro329GlnfsTer?
XR_001753142.1:n.1936del