Canonical Allele Identifier: CA2841967717

Gene: CCBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59438068dup , CM000680.2:g.59438068dup	GRCh38
NC_000018.9:g.57105300dup , CM000680.1:g.57105300dup	GRCh37
NC_000018.8:g.55256280dup	NCBI36
NG_016990.1:g.264345dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.990+43dup
ENST00000650467.2:c.765+43dup	ENSP00000496897.2:n.765+43dup
ENST00000695903.1:c.*39dup	ENSP00000512255.1:n.*39dup
ENST00000695904.1:c.1100+43dup	ENSP00000512259.1:n.1100+43dup
ENST00000439986.9:c.987+43dup MANE Select	ENSP00000404464.2:n.987+43dup
ENST00000589116.2:n.695+43dup
ENST00000649564.1:c.987+43dup	ENSP00000497183.1:n.987+43dup
ENST00000650467.1:c.643+43dup
ENST00000398179.3:c.777+43dup	ENSP00000381241.3:n.777+43dup
ENST00000439986.8:c.987+43dup	ENSP00000404464.2:n.987+43dup
ENST00000589116.1:n.695+43dup
NM_133459.3:c.987+43dup	NP_597716.1:n.987+43dup
XM_005266648.2:c.987+43dup	XP_005266705.1:n.987+43dup
NM_133459.4:c.987+43dup MANE Select	NP_597716.1:n.987+43dup
XM_017025556.1:c.1100+43dup	XP_016881045.1:n.1100+43dup
XM_017025557.1:c.1100+43dup	XP_016881046.1:n.1100+43dup
XM_017025558.1:c.1030dup	XP_016881047.1:p.Gln344ProfsTer6
XM_024451091.1:c.987+43dup	XP_024306859.1:n.987+43dup
XR_001753142.1:n.1982dup