Canonical Allele Identifier: CA630094141

Gene: CCBE1

Linked Data

• dbSNP Id: rs1486252745
• gnomAD v2: 18-57105313-TG-T
• MyVariant Identifiers: chr18:g.57105314del (hg19) ; chr18:g.59438082del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59438085del , CM000680.2:g.59438085del	GRCh38
NC_000018.9:g.57105317del , CM000680.1:g.57105317del	GRCh37
NC_000018.8:g.55256297del	NCBI36
NG_016990.1:g.264331del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.990+29del
ENST00000650467.2:c.765+29del	ENSP00000496897.2:n.765+29del
ENST00000695903.1:c.*25del	ENSP00000512255.1:n.*25del
ENST00000695904.1:c.1100+29del	ENSP00000512259.1:n.1100+29del
ENST00000439986.9:c.987+29del MANE Select	ENSP00000404464.2:n.987+29del
ENST00000589116.2:n.695+29del
ENST00000649564.1:c.987+29del	ENSP00000497183.1:n.987+29del
ENST00000650467.1:c.643+29del
ENST00000398179.3:c.777+29del	ENSP00000381241.3:n.777+29del
ENST00000439986.8:c.987+29del	ENSP00000404464.2:n.987+29del
ENST00000589116.1:n.695+29del
NM_133459.3:c.987+29del	NP_597716.1:n.987+29del
XM_005266648.2:c.987+29del	XP_005266705.1:n.987+29del
NM_133459.4:c.987+29del MANE Select	NP_597716.1:n.987+29del
XM_017025556.1:c.1100+29del	XP_016881045.1:n.1100+29del
XM_017025557.1:c.1100+29del	XP_016881046.1:n.1100+29del
XM_017025558.1:c.1016del	XP_016881047.1:p.Pro339GlnfsTer14
XM_024451091.1:c.987+29del	XP_024306859.1:n.987+29del
XR_001753142.1:n.1968del