Canonical Allele Identifier: CA2666802931

Gene: CEP97

Linked Data

• gnomAD v4: 3-101758132-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758133del , CM000665.2:g.101758133del	GRCh38
NC_000003.11:g.101476977del , CM000665.1:g.101476977del	GRCh37
NC_000003.10:g.102959667del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1162del	ENSP00000419009.1:n.*1162del
ENST00000467655.2:c.*614del	ENSP00000418547.2:n.*614del
ENST00000704365.1:c.1527del	ENSP00000515873.1:p.Glu509AspfsTer7
ENST00000704366.1:c.1425del	ENSP00000515874.1:p.Glu475AspfsTer7
ENST00000704367.1:c.1248del	ENSP00000515875.1:p.Glu416AspfsTer7
ENST00000704368.1:n.2020del
ENST00000704369.1:c.1041del	ENSP00000515876.1:p.Glu347AspfsTer7
ENST00000704370.1:c.1521del	ENSP00000515877.1:p.Glu507AspfsTer7
ENST00000704372.1:n.1881del
ENST00000704444.1:c.1311del	ENSP00000515896.1:p.Glu437AspfsTer7
ENST00000704445.1:c.1179del	ENSP00000515897.1:p.Glu393AspfsTer7
ENST00000704446.1:c.1048+937del	ENSP00000515898.1:n.1048+937del
ENST00000341893.8:c.1527del MANE Select	ENSP00000342510.3:p.Glu509AspfsTer7
ENST00000341893.7:c.1527del	ENSP00000342510.3:p.Glu509AspfsTer7
ENST00000467655.1:c.1142del	ENSP00000418547.1:n.1142del
ENST00000489172.5:n.1509del
ENST00000494050.5:c.1350del	ENSP00000418185.1:p.Glu450AspfsTer7
NM_001303401.1:c.1350del	NP_001290330.1:p.Glu450AspfsTer7
NM_024548.3:c.1527del	NP_078824.2:p.Glu509AspfsTer7
XM_006713743.2:c.1425del	XP_006713806.1:p.Glu475AspfsTer7
XM_011513125.1:c.1311del	XP_011511427.1:p.Glu437AspfsTer7
XM_011513126.1:c.1311del	XP_011511428.1:p.Glu437AspfsTer7
XM_011513127.1:c.1179del	XP_011511429.1:p.Glu393AspfsTer7
XM_006713743.4:c.1425del	XP_006713806.1:p.Glu475AspfsTer7
XM_017007178.2:c.1248del	XP_016862667.1:p.Glu416AspfsTer7
NM_024548.4:c.1527del MANE Select	NP_078824.2:p.Glu509AspfsTer7
NM_001303401.2:c.1350del	NP_001290330.1:p.Glu450AspfsTer7