Canonical Allele Identifier: CA2306909688

Gene: CCBE1

Linked Data

• dbSNP Id: rs1910234033
• gnomAD v4: 18-59437961-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59437966_59437967del , CM000680.2:g.59437966_59437967del	GRCh38
NC_000018.9:g.57105198_57105199del , CM000680.1:g.57105198_57105199del	GRCh37
NC_000018.8:g.55256178_55256179del	NCBI36
NG_016990.1:g.264450_264451del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.990+148_990+149del
ENST00000650467.2:c.765+148_765+149del	ENSP00000496897.2:n.765+148_765+149del
ENST00000695903.1:c.*66+78_*66+79del	ENSP00000512255.1:n.*66+78_*66+79del
ENST00000695904.1:c.1100+148_1100+149del	ENSP00000512259.1:n.1100+148_1100+149del
ENST00000439986.9:c.987+148_987+149del MANE Select	ENSP00000404464.2:n.987+148_987+149del
ENST00000589116.2:n.695+148_695+149del
ENST00000649564.1:c.987+148_987+149del	ENSP00000497183.1:n.987+148_987+149del
ENST00000650467.1:c.643+148_643+149del
ENST00000398179.3:c.777+148_777+149del	ENSP00000381241.3:n.777+148_777+149del
ENST00000439986.8:c.987+148_987+149del	ENSP00000404464.2:n.987+148_987+149del
ENST00000589116.1:n.695+148_695+149del
NM_133459.3:c.987+148_987+149del	NP_597716.1:n.987+148_987+149del
XM_005266648.2:c.987+148_987+149del	XP_005266705.1:n.987+148_987+149del
NM_133459.4:c.987+148_987+149del MANE Select	NP_597716.1:n.987+148_987+149del
XM_017025556.1:c.1100+148_1100+149del	XP_016881045.1:n.1100+148_1100+149del
XM_017025557.1:c.1100+148_1100+149del	XP_016881046.1:n.1100+148_1100+149del
XM_017025558.1:c.1057+78_1057+79del	XP_016881047.1:n.1057+78_1057+79del
XM_024451091.1:c.987+148_987+149del	XP_024306859.1:n.987+148_987+149del
XR_001753142.1:n.2009+78_2009+79del