Canonical Allele Identifier: CA990849970

Gene: CCBE1

Linked Data

• dbSNP Id: rs2054071689
• gnomAD v3: 18-59647565-CTG-C
• gnomAD v4: 18-59647565-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59647569_59647570del , CM000680.2:g.59647569_59647570del	GRCh38
NC_000018.9:g.57314801_57314802del , CM000680.1:g.57314801_57314802del	GRCh37
NC_000018.8:g.55465781_55465782del	NCBI36
NG_016990.1:g.54846_54847del

Transcript Alleles

HGVS	Amino-acid change
ENST00000589419.2:n.215+18509_215+18510del
ENST00000650467.2:c.212+49062_212+49063del	ENSP00000496897.2:n.212+49062_212+49063del
ENST00000695903.1:c.212+49062_212+49063del	ENSP00000512255.1:n.212+49062_212+49063del
ENST00000695904.1:c.212+49062_212+49063del	ENSP00000512259.1:n.212+49062_212+49063del
ENST00000439986.9:c.212+49062_212+49063del MANE Select	ENSP00000404464.2:n.212+49062_212+49063del
ENST00000649564.1:c.212+49062_212+49063del	ENSP00000497183.1:n.212+49062_212+49063del
ENST00000650467.1:c.90+49062_90+49063del
ENST00000439986.8:c.212+49062_212+49063del	ENSP00000404464.2:n.212+49062_212+49063del
ENST00000589419.1:c.-362+18509_-362+18510del	ENSP00000467710.1:n.-362+18509_-362+18510del
NM_133459.3:c.212+49062_212+49063del	NP_597716.1:n.212+49062_212+49063del
XM_005266648.2:c.212+49062_212+49063del	XP_005266705.1:n.212+49062_212+49063del
NM_133459.4:c.212+49062_212+49063del MANE Select	NP_597716.1:n.212+49062_212+49063del
XM_017025556.1:c.212+49062_212+49063del	XP_016881045.1:n.212+49062_212+49063del
XM_017025557.1:c.212+49062_212+49063del	XP_016881046.1:n.212+49062_212+49063del
XM_017025558.1:c.212+49062_212+49063del	XP_016881047.1:n.212+49062_212+49063del
XM_024451091.1:c.212+49062_212+49063del	XP_024306859.1:n.212+49062_212+49063del
XR_001753142.1:n.1051+49062_1051+49063del