Canonical Allele Identifier: CA645514425

Gene: CEP97

Linked Data

• COSMIC: COSM4612436 ; COSM4612437

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758118del , CM000665.2:g.101758118del	GRCh38
NC_000003.11:g.101476962del , CM000665.1:g.101476962del	GRCh37
NC_000003.10:g.102959652del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1147del	ENSP00000419009.1:n.*1147del
ENST00000467655.2:c.*599del	ENSP00000418547.2:n.*599del
ENST00000704365.1:c.1512del	ENSP00000515873.1:p.Pro505LeufsTer11
ENST00000704366.1:c.1410del	ENSP00000515874.1:p.Pro471LeufsTer11
ENST00000704367.1:c.1233del	ENSP00000515875.1:p.Pro412LeufsTer11
ENST00000704368.1:n.2005del
ENST00000704369.1:c.1026del	ENSP00000515876.1:p.Pro343LeufsTer11
ENST00000704370.1:c.1506del	ENSP00000515877.1:p.Pro503LeufsTer11
ENST00000704372.1:n.1866del
ENST00000704444.1:c.1296del	ENSP00000515896.1:p.Pro433LeufsTer11
ENST00000704445.1:c.1164del	ENSP00000515897.1:p.Pro389LeufsTer11
ENST00000704446.1:c.1048+922del	ENSP00000515898.1:n.1048+922del
ENST00000341893.8:c.1512del MANE Select	ENSP00000342510.3:p.Pro505LeufsTer11
ENST00000341893.7:c.1512del	ENSP00000342510.3:p.Pro505LeufsTer11
ENST00000467655.1:c.1127del	ENSP00000418547.1:n.1127del
ENST00000489172.5:n.1494del
ENST00000494050.5:c.1335del	ENSP00000418185.1:p.Pro446LeufsTer11
NM_001303401.1:c.1335del	NP_001290330.1:p.Pro446LeufsTer11
NM_024548.3:c.1512del	NP_078824.2:p.Pro505LeufsTer11
XM_006713743.2:c.1410del	XP_006713806.1:p.Pro471LeufsTer11
XM_011513125.1:c.1296del	XP_011511427.1:p.Pro433LeufsTer11
XM_011513126.1:c.1296del	XP_011511428.1:p.Pro433LeufsTer11
XM_011513127.1:c.1164del	XP_011511429.1:p.Pro389LeufsTer11
XM_006713743.4:c.1410del	XP_006713806.1:p.Pro471LeufsTer11
XM_017007178.2:c.1233del	XP_016862667.1:p.Pro412LeufsTer11
NM_024548.4:c.1512del MANE Select	NP_078824.2:p.Pro505LeufsTer11
NM_001303401.2:c.1335del	NP_001290330.1:p.Pro446LeufsTer11