Canonical Allele Identifier: CA2812681402

Gene: CCBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59438047_59438048del , CM000680.2:g.59438047_59438048del	GRCh38
NC_000018.9:g.57105279_57105280del , CM000680.1:g.57105279_57105280del	GRCh37
NC_000018.8:g.55256259_55256260del	NCBI36
NG_016990.1:g.264365_264366del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.990+63_990+64del
ENST00000650467.2:c.765+63_765+64del	ENSP00000496897.2:n.765+63_765+64del
ENST00000695903.1:c.*59_*60del	ENSP00000512255.1:n.*59_*60del
ENST00000695904.1:c.1100+63_1100+64del	ENSP00000512259.1:n.1100+63_1100+64del
ENST00000439986.9:c.987+63_987+64del MANE Select	ENSP00000404464.2:n.987+63_987+64del
ENST00000589116.2:n.695+63_695+64del
ENST00000649564.1:c.987+63_987+64del	ENSP00000497183.1:n.987+63_987+64del
ENST00000650467.1:c.643+63_643+64del
ENST00000398179.3:c.777+63_777+64del	ENSP00000381241.3:n.777+63_777+64del
ENST00000439986.8:c.987+63_987+64del	ENSP00000404464.2:n.987+63_987+64del
ENST00000589116.1:n.695+63_695+64del
NM_133459.3:c.987+63_987+64del	NP_597716.1:n.987+63_987+64del
XM_005266648.2:c.987+63_987+64del	XP_005266705.1:n.987+63_987+64del
NM_133459.4:c.987+63_987+64del MANE Select	NP_597716.1:n.987+63_987+64del
XM_017025556.1:c.1100+63_1100+64del	XP_016881045.1:n.1100+63_1100+64del
XM_017025557.1:c.1100+63_1100+64del	XP_016881046.1:n.1100+63_1100+64del
XM_017025558.1:c.1050_1051del	XP_016881047.1:p.Glu350AspfsTer?
XM_024451091.1:c.987+63_987+64del	XP_024306859.1:n.987+63_987+64del
XR_001753142.1:n.2002_2003del