Canonical Allele Identifier: CA2306909683

Gene: CCBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59437949_59437950delinsAG , CM000680.2:g.59437949_59437950delinsAG	GRCh38
NC_000018.9:g.57105181_57105182delinsAG , CM000680.1:g.57105181_57105182delinsAG	GRCh37
NC_000018.8:g.55256161_55256162delinsAG	NCBI36
NG_016990.1:g.264463_264464delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.990+161_990+162delinsCT
ENST00000650467.2:c.765+161_765+162delinsCT	ENSP00000496897.2:n.765+161_765+162delinsCT
ENST00000695903.1:c.*66+91_*66+92delinsCT	ENSP00000512255.1:n.*66+91_*66+92delinsCT
ENST00000695904.1:c.1100+161_1100+162delinsCT	ENSP00000512259.1:n.1100+161_1100+162delinsCT
ENST00000439986.9:c.987+161_987+162delinsCT MANE Select	ENSP00000404464.2:n.987+161_987+162delinsCT
ENST00000589116.2:n.695+161_695+162delinsCT
ENST00000649564.1:c.987+161_987+162delinsCT	ENSP00000497183.1:n.987+161_987+162delinsCT
ENST00000650467.1:c.643+161_643+162delinsCT
ENST00000398179.3:c.777+161_777+162delinsCT	ENSP00000381241.3:n.777+161_777+162delinsCT
ENST00000439986.8:c.987+161_987+162delinsCT	ENSP00000404464.2:n.987+161_987+162delinsCT
ENST00000589116.1:n.695+161_695+162delinsCT
NM_133459.3:c.987+161_987+162delinsCT	NP_597716.1:n.987+161_987+162delinsCT
XM_005266648.2:c.987+161_987+162delinsCT	XP_005266705.1:n.987+161_987+162delinsCT
NM_133459.4:c.987+161_987+162delinsCT MANE Select	NP_597716.1:n.987+161_987+162delinsCT
XM_017025556.1:c.1100+161_1100+162delinsCT	XP_016881045.1:n.1100+161_1100+162delinsCT
XM_017025557.1:c.1100+161_1100+162delinsCT	XP_016881046.1:n.1100+161_1100+162delinsCT
XM_017025558.1:c.1057+91_1057+92delinsCT	XP_016881047.1:n.1057+91_1057+92delinsCT
XM_024451091.1:c.987+161_987+162delinsCT	XP_024306859.1:n.987+161_987+162delinsCT
XR_001753142.1:n.2009+91_2009+92delinsCT