Canonical Allele Identifier: CA2306909748

Gene: CCBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59438081_59438082delinsTG , CM000680.2:g.59438081_59438082delinsTG	GRCh38
NC_000018.9:g.57105313_57105314delinsTG , CM000680.1:g.57105313_57105314delinsTG	GRCh37
NC_000018.8:g.55256293_55256294delinsTG	NCBI36
NG_016990.1:g.264331_264332delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.990+29_990+30delinsCA
ENST00000650467.2:c.765+29_765+30delinsCA	ENSP00000496897.2:n.765+29_765+30delinsCA
ENST00000695903.1:c.*25_*26delinsCA	ENSP00000512255.1:n.*25_*26delinsCA
ENST00000695904.1:c.1100+29_1100+30delinsCA	ENSP00000512259.1:n.1100+29_1100+30delinsCA
ENST00000439986.9:c.987+29_987+30delinsCA MANE Select	ENSP00000404464.2:n.987+29_987+30delinsCA
ENST00000589116.2:n.695+29_695+30delinsCA
ENST00000649564.1:c.987+29_987+30delinsCA	ENSP00000497183.1:n.987+29_987+30delinsCA
ENST00000650467.1:c.643+29_643+30delinsCA
ENST00000398179.3:c.777+29_777+30delinsCA	ENSP00000381241.3:n.777+29_777+30delinsCA
ENST00000439986.8:c.987+29_987+30delinsCA	ENSP00000404464.2:n.987+29_987+30delinsCA
ENST00000589116.1:n.695+29_695+30delinsCA
NM_133459.3:c.987+29_987+30delinsCA	NP_597716.1:n.987+29_987+30delinsCA
XM_005266648.2:c.987+29_987+30delinsCA	XP_005266705.1:n.987+29_987+30delinsCA
NM_133459.4:c.987+29_987+30delinsCA MANE Select	NP_597716.1:n.987+29_987+30delinsCA
XM_017025556.1:c.1100+29_1100+30delinsCA	XP_016881045.1:n.1100+29_1100+30delinsCA
XM_017025557.1:c.1100+29_1100+30delinsCA	XP_016881046.1:n.1100+29_1100+30delinsCA
XM_017025558.1:c.1016_1017delinsCA	XP_016881047.1:p.Pro339=
XM_024451091.1:c.987+29_987+30delinsCA	XP_024306859.1:n.987+29_987+30delinsCA
XR_001753142.1:n.1968_1969delinsCA