Canonical Allele Identifier: CA2306909755

Gene: CCBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59438092_59438094delinsGAC , CM000680.2:g.59438092_59438094delinsGAC	GRCh38
NC_000018.9:g.57105324_57105326delinsGAC , CM000680.1:g.57105324_57105326delinsGAC	GRCh37
NC_000018.8:g.55256304_55256306delinsGAC	NCBI36
NG_016990.1:g.264319_264321delinsGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.990+17_990+19delinsGTC
ENST00000650467.2:c.765+17_765+19delinsGTC	ENSP00000496897.2:n.765+17_765+19delinsGTC
ENST00000695903.1:c.*13_*15delinsGTC	ENSP00000512255.1:n.*13_*15delinsGTC
ENST00000695904.1:c.1100+17_1100+19delinsGTC	ENSP00000512259.1:n.1100+17_1100+19delinsGTC
ENST00000439986.9:c.987+17_987+19delinsGTC MANE Select	ENSP00000404464.2:n.987+17_987+19delinsGTC
ENST00000589116.2:n.695+17_695+19delinsGTC
ENST00000649564.1:c.987+17_987+19delinsGTC	ENSP00000497183.1:n.987+17_987+19delinsGTC
ENST00000650467.1:c.643+17_643+19delinsGTC
ENST00000398179.3:c.777+17_777+19delinsGTC	ENSP00000381241.3:n.777+17_777+19delinsGTC
ENST00000439986.8:c.987+17_987+19delinsGTC	ENSP00000404464.2:n.987+17_987+19delinsGTC
ENST00000589116.1:n.695+17_695+19delinsGTC
NM_133459.3:c.987+17_987+19delinsGTC	NP_597716.1:n.987+17_987+19delinsGTC
XM_005266648.2:c.987+17_987+19delinsGTC	XP_005266705.1:n.987+17_987+19delinsGTC
NM_133459.4:c.987+17_987+19delinsGTC MANE Select	NP_597716.1:n.987+17_987+19delinsGTC
XM_017025556.1:c.1100+17_1100+19delinsGTC	XP_016881045.1:n.1100+17_1100+19delinsGTC
XM_017025557.1:c.1100+17_1100+19delinsGTC	XP_016881046.1:n.1100+17_1100+19delinsGTC
XM_017025558.1:c.1004_1006delinsGTC	XP_016881047.1:p.Cys335=
XM_024451091.1:c.987+17_987+19delinsGTC	XP_024306859.1:n.987+17_987+19delinsGTC
XR_001753142.1:n.1956_1958delinsGTC