Canonical Allele Identifier: CA2757692545

Gene: CEP97

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758159del , CM000665.2:g.101758159del	GRCh38
NC_000003.11:g.101477003del , CM000665.1:g.101477003del	GRCh37
NC_000003.10:g.102959693del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1188del	ENSP00000419009.1:n.*1188del
ENST00000467655.2:c.*640del	ENSP00000418547.2:n.*640del
ENST00000704365.1:c.1553del	ENSP00000515873.1:p.Pro518GlnfsTer22
ENST00000704366.1:c.1451del	ENSP00000515874.1:p.Pro484GlnfsTer22
ENST00000704367.1:c.1274del	ENSP00000515875.1:p.Pro425GlnfsTer22
ENST00000704368.1:n.2046del
ENST00000704369.1:c.1067del	ENSP00000515876.1:p.Pro356GlnfsTer22
ENST00000704370.1:c.1547del	ENSP00000515877.1:p.Pro516GlnfsTer22
ENST00000704372.1:n.1907del
ENST00000704444.1:c.1337del	ENSP00000515896.1:p.Pro446GlnfsTer22
ENST00000704445.1:c.1205del	ENSP00000515897.1:p.Pro402GlnfsTer22
ENST00000704446.1:c.1048+963del	ENSP00000515898.1:n.1048+963del
ENST00000341893.8:c.1553del MANE Select	ENSP00000342510.3:p.Pro518GlnfsTer22
ENST00000341893.7:c.1553del	ENSP00000342510.3:p.Pro518GlnfsTer22
ENST00000467655.1:c.1168del	ENSP00000418547.1:n.1168del
ENST00000489172.5:n.1535del
ENST00000494050.5:c.1376del	ENSP00000418185.1:p.Pro459GlnfsTer22
NM_001303401.1:c.1376del	NP_001290330.1:p.Pro459GlnfsTer22
NM_024548.3:c.1553del	NP_078824.2:p.Pro518GlnfsTer22
XM_006713743.2:c.1451del	XP_006713806.1:p.Pro484GlnfsTer22
XM_011513125.1:c.1337del	XP_011511427.1:p.Pro446GlnfsTer22
XM_011513126.1:c.1337del	XP_011511428.1:p.Pro446GlnfsTer22
XM_011513127.1:c.1205del	XP_011511429.1:p.Pro402GlnfsTer22
XM_006713743.4:c.1451del	XP_006713806.1:p.Pro484GlnfsTer22
XM_017007178.2:c.1274del	XP_016862667.1:p.Pro425GlnfsTer22
NM_024548.4:c.1553del MANE Select	NP_078824.2:p.Pro518GlnfsTer22
NM_001303401.2:c.1376del	NP_001290330.1:p.Pro459GlnfsTer22