Canonical Allele Identifier: CA2666802932

Gene: CEP97

Linked Data

• gnomAD v4: 3-101758147-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758148del , CM000665.2:g.101758148del	GRCh38
NC_000003.11:g.101476992del , CM000665.1:g.101476992del	GRCh37
NC_000003.10:g.102959682del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1177del	ENSP00000419009.1:n.*1177del
ENST00000467655.2:c.*629del	ENSP00000418547.2:n.*629del
ENST00000704365.1:c.1542del	ENSP00000515873.1:p.Asp514GlufsTer2
ENST00000704366.1:c.1440del	ENSP00000515874.1:p.Asp480GlufsTer2
ENST00000704367.1:c.1263del	ENSP00000515875.1:p.Asp421GlufsTer2
ENST00000704368.1:n.2035del
ENST00000704369.1:c.1056del	ENSP00000515876.1:p.Asp352GlufsTer2
ENST00000704370.1:c.1536del	ENSP00000515877.1:p.Asp512GlufsTer2
ENST00000704372.1:n.1896del
ENST00000704444.1:c.1326del	ENSP00000515896.1:p.Asp442GlufsTer2
ENST00000704445.1:c.1194del	ENSP00000515897.1:p.Asp398GlufsTer2
ENST00000704446.1:c.1048+952del	ENSP00000515898.1:n.1048+952del
ENST00000341893.8:c.1542del MANE Select	ENSP00000342510.3:p.Asp514GlufsTer2
ENST00000341893.7:c.1542del	ENSP00000342510.3:p.Asp514GlufsTer2
ENST00000467655.1:c.1157del	ENSP00000418547.1:n.1157del
ENST00000489172.5:n.1524del
ENST00000494050.5:c.1365del	ENSP00000418185.1:p.Asp455GlufsTer2
NM_001303401.1:c.1365del	NP_001290330.1:p.Asp455GlufsTer2
NM_024548.3:c.1542del	NP_078824.2:p.Asp514GlufsTer2
XM_006713743.2:c.1440del	XP_006713806.1:p.Asp480GlufsTer2
XM_011513125.1:c.1326del	XP_011511427.1:p.Asp442GlufsTer2
XM_011513126.1:c.1326del	XP_011511428.1:p.Asp442GlufsTer2
XM_011513127.1:c.1194del	XP_011511429.1:p.Asp398GlufsTer2
XM_006713743.4:c.1440del	XP_006713806.1:p.Asp480GlufsTer2
XM_017007178.2:c.1263del	XP_016862667.1:p.Asp421GlufsTer2
NM_024548.4:c.1542del MANE Select	NP_078824.2:p.Asp514GlufsTer2
NM_001303401.2:c.1365del	NP_001290330.1:p.Asp455GlufsTer2