Canonical Allele Identifier: CA2306909757

Gene: CCBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59438096_59438098delinsCAG , CM000680.2:g.59438096_59438098delinsCAG	GRCh38
NC_000018.9:g.57105328_57105330delinsCAG , CM000680.1:g.57105328_57105330delinsCAG	GRCh37
NC_000018.8:g.55256308_55256310delinsCAG	NCBI36
NG_016990.1:g.264315_264317delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.990+13_990+15delinsCTG
ENST00000650467.2:c.765+13_765+15delinsCTG	ENSP00000496897.2:n.765+13_765+15delinsCTG
ENST00000695903.1:c.*9_*11delinsCTG	ENSP00000512255.1:n.*9_*11delinsCTG
ENST00000695904.1:c.1100+13_1100+15delinsCTG	ENSP00000512259.1:n.1100+13_1100+15delinsCTG
ENST00000439986.9:c.987+13_987+15delinsCTG MANE Select	ENSP00000404464.2:n.987+13_987+15delinsCTG
ENST00000589116.2:n.695+13_695+15delinsCTG
ENST00000649564.1:c.987+13_987+15delinsCTG	ENSP00000497183.1:n.987+13_987+15delinsCTG
ENST00000650467.1:c.643+13_643+15delinsCTG
ENST00000398179.3:c.777+13_777+15delinsCTG	ENSP00000381241.3:n.777+13_777+15delinsCTG
ENST00000439986.8:c.987+13_987+15delinsCTG	ENSP00000404464.2:n.987+13_987+15delinsCTG
ENST00000589116.1:n.695+13_695+15delinsCTG
NM_133459.3:c.987+13_987+15delinsCTG	NP_597716.1:n.987+13_987+15delinsCTG
XM_005266648.2:c.987+13_987+15delinsCTG	XP_005266705.1:n.987+13_987+15delinsCTG
NM_133459.4:c.987+13_987+15delinsCTG MANE Select	NP_597716.1:n.987+13_987+15delinsCTG
XM_017025556.1:c.1100+13_1100+15delinsCTG	XP_016881045.1:n.1100+13_1100+15delinsCTG
XM_017025557.1:c.1100+13_1100+15delinsCTG	XP_016881046.1:n.1100+13_1100+15delinsCTG
XM_017025558.1:c.1000_1002delinsCTG	XP_016881047.1:p.Leu334=
XM_024451091.1:c.987+13_987+15delinsCTG	XP_024306859.1:n.987+13_987+15delinsCTG
XR_001753142.1:n.1952_1954delinsCTG