Canonical Allele Identifier: CA2306909781

Gene: CCBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59438142_59438143delinsTC , CM000680.2:g.59438142_59438143delinsTC	GRCh38
NC_000018.9:g.57105374_57105375delinsTC , CM000680.1:g.57105374_57105375delinsTC	GRCh37
NC_000018.8:g.55256354_55256355delinsTC	NCBI36
NG_016990.1:g.264270_264271delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.958_959delinsGA
ENST00000650467.2:c.733_734delinsGA	ENSP00000496897.2:p.Glu245=
ENST00000695903.1:c.1068_1069delinsGA	ENSP00000512255.1:p.Gly356=
ENST00000695904.1:c.1068_1069delinsGA	ENSP00000512259.1:p.Gly356=
ENST00000439986.9:c.955_956delinsGA MANE Select	ENSP00000404464.2:p.Glu319=
ENST00000589116.2:n.663_664delinsGA
ENST00000649564.1:c.955_956delinsGA	ENSP00000497183.1:p.Glu319=
ENST00000650467.1:c.611_612delinsGA
ENST00000398179.3:c.745_746delinsGA	ENSP00000381241.3:p.Glu249=
ENST00000439986.8:c.955_956delinsGA	ENSP00000404464.2:p.Glu319=
ENST00000589116.1:n.663_664delinsGA
NM_133459.3:c.955_956delinsGA	NP_597716.1:p.Glu319=
XM_005266648.2:c.955_956delinsGA	XP_005266705.1:p.Glu319=
NM_133459.4:c.955_956delinsGA MANE Select	NP_597716.1:p.Glu319=
XM_017025556.1:c.1068_1069delinsGA	XP_016881045.1:p.Gly356=
XM_017025557.1:c.1068_1069delinsGA	XP_016881046.1:p.Gly356=
XM_017025558.1:c.955_956delinsGA	XP_016881047.1:p.Glu319=
XM_024451091.1:c.955_956delinsGA	XP_024306859.1:p.Glu319=
XR_001753142.1:n.1907_1908delinsGA