Canonical Allele Identifier: CA630094155

Gene: CCBE1

Linked Data

• ClinVar Variation Id: 2801725
• ClinVar RCV Id: RCV003676292
• dbSNP Id: rs1471558035
• gnomAD v2: 18-57105328-CAG-C
• gnomAD v3: 18-59438096-CAG-C
• gnomAD v4: 18-59438096-CAG-C
• MyVariant Identifiers: chr18:g.57105329_57105330del (hg19) ; chr18:g.59438097_59438098del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59438099_59438100del , CM000680.2:g.59438099_59438100del	GRCh38
NC_000018.9:g.57105331_57105332del , CM000680.1:g.57105331_57105332del	GRCh37
NC_000018.8:g.55256311_55256312del	NCBI36
NG_016990.1:g.264315_264316del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.990+13_990+14del
ENST00000650467.2:c.765+13_765+14del	ENSP00000496897.2:n.765+13_765+14del
ENST00000695903.1:c.*9_*10del	ENSP00000512255.1:n.*9_*10del
ENST00000695904.1:c.1100+13_1100+14del	ENSP00000512259.1:n.1100+13_1100+14del
ENST00000439986.9:c.987+13_987+14del MANE Select	ENSP00000404464.2:n.987+13_987+14del
ENST00000589116.2:n.695+13_695+14del
ENST00000649564.1:c.987+13_987+14del	ENSP00000497183.1:n.987+13_987+14del
ENST00000650467.1:c.643+13_643+14del
ENST00000398179.3:c.777+13_777+14del	ENSP00000381241.3:n.777+13_777+14del
ENST00000439986.8:c.987+13_987+14del	ENSP00000404464.2:n.987+13_987+14del
ENST00000589116.1:n.695+13_695+14del
NM_133459.3:c.987+13_987+14del	NP_597716.1:n.987+13_987+14del
XM_005266648.2:c.987+13_987+14del	XP_005266705.1:n.987+13_987+14del
NM_133459.4:c.987+13_987+14del MANE Select	NP_597716.1:n.987+13_987+14del
XM_017025556.1:c.1100+13_1100+14del	XP_016881045.1:n.1100+13_1100+14del
XM_017025557.1:c.1100+13_1100+14del	XP_016881046.1:n.1100+13_1100+14del
XM_017025558.1:c.1000_1001del	XP_016881047.1:p.Leu334ValfsTer15
XM_024451091.1:c.987+13_987+14del	XP_024306859.1:n.987+13_987+14del
XR_001753142.1:n.1952_1953del