Canonical Allele Identifier: CA2812681403

Gene: CCBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59438050_59438061del , CM000680.2:g.59438050_59438061del	GRCh38
NC_000018.9:g.57105282_57105293del , CM000680.1:g.57105282_57105293del	GRCh37
NC_000018.8:g.55256262_55256273del	NCBI36
NG_016990.1:g.264352_264363del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.990+50_990+61del
ENST00000650467.2:c.765+50_765+61del	ENSP00000496897.2:n.765+50_765+61del
ENST00000695903.1:c.*46_*57del	ENSP00000512255.1:n.*46_*57del
ENST00000695904.1:c.1100+50_1100+61del	ENSP00000512259.1:n.1100+50_1100+61del
ENST00000439986.9:c.987+50_987+61del MANE Select	ENSP00000404464.2:n.987+50_987+61del
ENST00000589116.2:n.695+50_695+61del
ENST00000649564.1:c.987+50_987+61del	ENSP00000497183.1:n.987+50_987+61del
ENST00000650467.1:c.643+50_643+61del
ENST00000398179.3:c.777+50_777+61del	ENSP00000381241.3:n.777+50_777+61del
ENST00000439986.8:c.987+50_987+61del	ENSP00000404464.2:n.987+50_987+61del
ENST00000589116.1:n.695+50_695+61del
NM_133459.3:c.987+50_987+61del	NP_597716.1:n.987+50_987+61del
XM_005266648.2:c.987+50_987+61del	XP_005266705.1:n.987+50_987+61del
NM_133459.4:c.987+50_987+61del MANE Select	NP_597716.1:n.987+50_987+61del
XM_017025556.1:c.1100+50_1100+61del	XP_016881045.1:n.1100+50_1100+61del
XM_017025557.1:c.1100+50_1100+61del	XP_016881046.1:n.1100+50_1100+61del
XM_017025558.1:c.1037_1048del	XP_016881047.1:p.Cys346Ter
XM_024451091.1:c.987+50_987+61del	XP_024306859.1:n.987+50_987+61del
XR_001753142.1:n.1989_2000del