Canonical Allele Identifier: CA2642019379

Gene: CCBE1

Linked Data

• gnomAD v4: 18-59437982-T-TTC

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59437984_59437985dup , CM000680.2:g.59437984_59437985dup	GRCh38
NC_000018.9:g.57105216_57105217dup , CM000680.1:g.57105216_57105217dup	GRCh37
NC_000018.8:g.55256196_55256197dup	NCBI36
NG_016990.1:g.264429_264430dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.990+127_990+128dup
ENST00000650467.2:c.765+127_765+128dup	ENSP00000496897.2:n.765+127_765+128dup
ENST00000695903.1:c.*66+57_*66+58dup	ENSP00000512255.1:n.*66+57_*66+58dup
ENST00000695904.1:c.1100+127_1100+128dup	ENSP00000512259.1:n.1100+127_1100+128dup
ENST00000439986.9:c.987+127_987+128dup MANE Select	ENSP00000404464.2:n.987+127_987+128dup
ENST00000589116.2:n.695+127_695+128dup
ENST00000649564.1:c.987+127_987+128dup	ENSP00000497183.1:n.987+127_987+128dup
ENST00000650467.1:c.643+127_643+128dup
ENST00000398179.3:c.777+127_777+128dup	ENSP00000381241.3:n.777+127_777+128dup
ENST00000439986.8:c.987+127_987+128dup	ENSP00000404464.2:n.987+127_987+128dup
ENST00000589116.1:n.695+127_695+128dup
NM_133459.3:c.987+127_987+128dup	NP_597716.1:n.987+127_987+128dup
XM_005266648.2:c.987+127_987+128dup	XP_005266705.1:n.987+127_987+128dup
NM_133459.4:c.987+127_987+128dup MANE Select	NP_597716.1:n.987+127_987+128dup
XM_017025556.1:c.1100+127_1100+128dup	XP_016881045.1:n.1100+127_1100+128dup
XM_017025557.1:c.1100+127_1100+128dup	XP_016881046.1:n.1100+127_1100+128dup
XM_017025558.1:c.1057+57_1057+58dup	XP_016881047.1:n.1057+57_1057+58dup
XM_024451091.1:c.987+127_987+128dup	XP_024306859.1:n.987+127_987+128dup
XR_001753142.1:n.2009+57_2009+58dup