Canonical Allele Identifier: CA781014619

Gene: CCBE1

Linked Data

• dbSNP Id: rs1339897232
• MyVariant Identifiers: chr18:g.57105486_57105487del (hg19) ; chr18:g.59438254_59438255del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59438254_59438255del , CM000680.2:g.59438254_59438255del	GRCh38
NC_000018.9:g.57105486_57105487del , CM000680.1:g.57105486_57105487del	GRCh37
NC_000018.8:g.55256466_55256467del	NCBI36
NG_016990.1:g.264158_264159del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.955-109_955-108del
ENST00000650467.2:c.730-109_730-108del	ENSP00000496897.2:n.730-109_730-108del
ENST00000695903.1:c.1065-109_1065-108del	ENSP00000512255.1:n.1065-109_1065-108del
ENST00000695904.1:c.1065-109_1065-108del	ENSP00000512259.1:n.1065-109_1065-108del
ENST00000439986.9:c.952-109_952-108del MANE Select	ENSP00000404464.2:n.952-109_952-108del
ENST00000589116.2:n.660-109_660-108del
ENST00000649564.1:c.952-109_952-108del	ENSP00000497183.1:n.952-109_952-108del
ENST00000650467.1:c.608-109_608-108del
ENST00000398179.3:c.742-109_742-108del	ENSP00000381241.3:n.742-109_742-108del
ENST00000439986.8:c.952-109_952-108del	ENSP00000404464.2:n.952-109_952-108del
ENST00000589116.1:n.660-109_660-108del
NM_133459.3:c.952-109_952-108del	NP_597716.1:n.952-109_952-108del
XM_005266648.2:c.952-109_952-108del	XP_005266705.1:n.952-109_952-108del
NM_133459.4:c.952-109_952-108del MANE Select	NP_597716.1:n.952-109_952-108del
XM_017025556.1:c.1065-109_1065-108del	XP_016881045.1:n.1065-109_1065-108del
XM_017025557.1:c.1065-109_1065-108del	XP_016881046.1:n.1065-109_1065-108del
XM_017025558.1:c.952-109_952-108del	XP_016881047.1:n.952-109_952-108del
XM_024451091.1:c.952-109_952-108del	XP_024306859.1:n.952-109_952-108del
XR_001753142.1:n.1904-109_1904-108del