Canonical Allele Identifier: CA2595269073

Gene: CCBE1

Linked Data

• dbSNP Id: rs2144659328
• gnomAD v3: 18-59647591-AT-A
• gnomAD v4: 18-59647591-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59647593del , CM000680.2:g.59647593del	GRCh38
NC_000018.9:g.57314825del , CM000680.1:g.57314825del	GRCh37
NC_000018.8:g.55465805del	NCBI36
NG_016990.1:g.54821del

Transcript Alleles

HGVS	Amino-acid change
ENST00000589419.2:n.215+18484del
ENST00000650467.2:c.212+49037del	ENSP00000496897.2:n.212+49037del
ENST00000695903.1:c.212+49037del	ENSP00000512255.1:n.212+49037del
ENST00000695904.1:c.212+49037del	ENSP00000512259.1:n.212+49037del
ENST00000439986.9:c.212+49037del MANE Select	ENSP00000404464.2:n.212+49037del
ENST00000649564.1:c.212+49037del	ENSP00000497183.1:n.212+49037del
ENST00000650467.1:c.90+49037del
ENST00000439986.8:c.212+49037del	ENSP00000404464.2:n.212+49037del
ENST00000589419.1:c.-362+18484del	ENSP00000467710.1:n.-362+18484del
NM_133459.3:c.212+49037del	NP_597716.1:n.212+49037del
XM_005266648.2:c.212+49037del	XP_005266705.1:n.212+49037del
NM_133459.4:c.212+49037del MANE Select	NP_597716.1:n.212+49037del
XM_017025556.1:c.212+49037del	XP_016881045.1:n.212+49037del
XM_017025557.1:c.212+49037del	XP_016881046.1:n.212+49037del
XM_017025558.1:c.212+49037del	XP_016881047.1:n.212+49037del
XM_024451091.1:c.212+49037del	XP_024306859.1:n.212+49037del
XR_001753142.1:n.1051+49037del