Canonical Allele Identifier: CA2307017108

Gene: CCBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59647461_59647466delinsTTGTAG , CM000680.2:g.59647461_59647466delinsTTGTAG	GRCh38
NC_000018.9:g.57314693_57314698delinsTTGTAG , CM000680.1:g.57314693_57314698delinsTTGTAG	GRCh37
NC_000018.8:g.55465673_55465678delinsTTGTAG	NCBI36
NG_016990.1:g.54947_54952delinsCTACAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.215+18610_215+18615delinsCTACAA
ENST00000650467.2:c.212+49163_212+49168delinsCTACAA	ENSP00000496897.2:n.212+49163_212+49168delinsCTACAA
ENST00000695903.1:c.212+49163_212+49168delinsCTACAA	ENSP00000512255.1:n.212+49163_212+49168delinsCTACAA
ENST00000695904.1:c.212+49163_212+49168delinsCTACAA	ENSP00000512259.1:n.212+49163_212+49168delinsCTACAA
ENST00000439986.9:c.212+49163_212+49168delinsCTACAA MANE Select	ENSP00000404464.2:n.212+49163_212+49168delinsCTACAA
ENST00000649564.1:c.212+49163_212+49168delinsCTACAA	ENSP00000497183.1:n.212+49163_212+49168delinsCTACAA
ENST00000650467.1:c.90+49163_90+49168delinsCTACAA
ENST00000439986.8:c.212+49163_212+49168delinsCTACAA	ENSP00000404464.2:n.212+49163_212+49168delinsCTACAA
ENST00000589419.1:c.-362+18610_-362+18615delinsCTACAA	ENSP00000467710.1:n.-362+18610_-362+18615delinsCTACAA
NM_133459.3:c.212+49163_212+49168delinsCTACAA	NP_597716.1:n.212+49163_212+49168delinsCTACAA
XM_005266648.2:c.212+49163_212+49168delinsCTACAA	XP_005266705.1:n.212+49163_212+49168delinsCTACAA
NM_133459.4:c.212+49163_212+49168delinsCTACAA MANE Select	NP_597716.1:n.212+49163_212+49168delinsCTACAA
XM_017025556.1:c.212+49163_212+49168delinsCTACAA	XP_016881045.1:n.212+49163_212+49168delinsCTACAA
XM_017025557.1:c.212+49163_212+49168delinsCTACAA	XP_016881046.1:n.212+49163_212+49168delinsCTACAA
XM_017025558.1:c.212+49163_212+49168delinsCTACAA	XP_016881047.1:n.212+49163_212+49168delinsCTACAA
XM_024451091.1:c.212+49163_212+49168delinsCTACAA	XP_024306859.1:n.212+49163_212+49168delinsCTACAA
XR_001753142.1:n.1051+49163_1051+49168delinsCTACAA