Canonical Allele Identifier: CA2306909714

Gene: CCBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59438009_59438010delinsAG , CM000680.2:g.59438009_59438010delinsAG	GRCh38
NC_000018.9:g.57105241_57105242delinsAG , CM000680.1:g.57105241_57105242delinsAG	GRCh37
NC_000018.8:g.55256221_55256222delinsAG	NCBI36
NG_016990.1:g.264403_264404delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.990+101_990+102delinsCT
ENST00000650467.2:c.765+101_765+102delinsCT	ENSP00000496897.2:n.765+101_765+102delinsCT
ENST00000695903.1:c.*66+31_*66+32delinsCT	ENSP00000512255.1:n.*66+31_*66+32delinsCT
ENST00000695904.1:c.1100+101_1100+102delinsCT	ENSP00000512259.1:n.1100+101_1100+102delinsCT
ENST00000439986.9:c.987+101_987+102delinsCT MANE Select	ENSP00000404464.2:n.987+101_987+102delinsCT
ENST00000589116.2:n.695+101_695+102delinsCT
ENST00000649564.1:c.987+101_987+102delinsCT	ENSP00000497183.1:n.987+101_987+102delinsCT
ENST00000650467.1:c.643+101_643+102delinsCT
ENST00000398179.3:c.777+101_777+102delinsCT	ENSP00000381241.3:n.777+101_777+102delinsCT
ENST00000439986.8:c.987+101_987+102delinsCT	ENSP00000404464.2:n.987+101_987+102delinsCT
ENST00000589116.1:n.695+101_695+102delinsCT
NM_133459.3:c.987+101_987+102delinsCT	NP_597716.1:n.987+101_987+102delinsCT
XM_005266648.2:c.987+101_987+102delinsCT	XP_005266705.1:n.987+101_987+102delinsCT
NM_133459.4:c.987+101_987+102delinsCT MANE Select	NP_597716.1:n.987+101_987+102delinsCT
XM_017025556.1:c.1100+101_1100+102delinsCT	XP_016881045.1:n.1100+101_1100+102delinsCT
XM_017025557.1:c.1100+101_1100+102delinsCT	XP_016881046.1:n.1100+101_1100+102delinsCT
XM_017025558.1:c.1057+31_1057+32delinsCT	XP_016881047.1:n.1057+31_1057+32delinsCT
XM_024451091.1:c.987+101_987+102delinsCT	XP_024306859.1:n.987+101_987+102delinsCT
XR_001753142.1:n.2009+31_2009+32delinsCT