Canonical Allele Identifier: CA2518881252

Gene: CCBE1

Linked Data

• gnomAD v4: 18-59438100-GTGCTACTTAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59438103_59438112del , CM000680.2:g.59438103_59438112del	GRCh38
NC_000018.9:g.57105335_57105344del , CM000680.1:g.57105335_57105344del	GRCh37
NC_000018.8:g.55256315_55256324del	NCBI36
NG_016990.1:g.264303_264312del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.990+1_990+10del
ENST00000650467.2:c.765+1_765+10del
ENST00000695903.1:c.1101_*6del	ENSP00000512255.1:n.[c.1101_*6del;Gln367HisfsTer17]
ENST00000695904.1:c.1100+1_1100+10del
ENST00000439986.9:c.987+1_987+10del
ENST00000589116.2:n.695+1_695+10del
ENST00000649564.1:c.987+1_987+10del
ENST00000650467.1:c.643+1_643+10del
ENST00000398179.3:c.777+1_777+10del
ENST00000439986.8:c.987+1_987+10del
ENST00000589116.1:n.695+1_695+10del
NM_133459.3:c.987+1_987+10del
XM_005266648.2:c.987+1_987+10del
NM_133459.4:c.987+1_987+10del
XM_017025556.1:c.1100+1_1100+10del
XM_017025557.1:c.1100+1_1100+10del
XM_017025558.1:c.988_997del	XP_016881047.1:p.Val330LeufsTer20
XM_024451091.1:c.987+1_987+10del
XR_001753142.1:n.1940_1949del