Canonical Allele Identifier: CA2306909684

Gene: CCBE1

Linked Data

• dbSNP Id: rs1910233642

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59437952del , CM000680.2:g.59437952del	GRCh38
NC_000018.9:g.57105184del , CM000680.1:g.57105184del	GRCh37
NC_000018.8:g.55256164del	NCBI36
NG_016990.1:g.264463del

Transcript Alleles

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