Canonical Allele Identifier: CA2306909692
Gene: CCBE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.59437965T= , CM000680.2:g.59437965T= GRCh38
NC_000018.9:g.57105197T= , CM000680.1:g.57105197T= GRCh37
NC_000018.8:g.55256177T= NCBI36
NG_016990.1:g.264448A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000589419.2:n.990+146A=
ENST00000650467.2:c.765+146A= ENSP00000496897.2:n.765+146A=
ENST00000695903.1:c.*66+76A= ENSP00000512255.1:n.*66+76A=
ENST00000695904.1:c.1100+146A= ENSP00000512259.1:n.1100+146A=
ENST00000439986.9:c.987+146A= MANE Select ENSP00000404464.2:n.987+146A=
ENST00000589116.2:n.695+146A=
ENST00000649564.1:c.987+146A= ENSP00000497183.1:n.987+146A=
ENST00000650467.1:c.643+146A=
ENST00000398179.3:c.777+146A= ENSP00000381241.3:n.777+146A=
ENST00000439986.8:c.987+146A= ENSP00000404464.2:n.987+146A=
ENST00000589116.1:n.695+146A=
NM_133459.3:c.987+146A= NP_597716.1:n.987+146A=
XM_005266648.2:c.987+146A= XP_005266705.1:n.987+146A=
NM_133459.4:c.987+146A= MANE Select NP_597716.1:n.987+146A=
XM_017025556.1:c.1100+146A= XP_016881045.1:n.1100+146A=
XM_017025557.1:c.1100+146A= XP_016881046.1:n.1100+146A=
XM_017025558.1:c.1057+76A= XP_016881047.1:n.1057+76A=
XM_024451091.1:c.987+146A= XP_024306859.1:n.987+146A=
XR_001753142.1:n.2009+76A=