Canonical Allele Identifier: CA1388867543
Gene: CEP97 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.101758119_101758128delinsCCTGAGTCAA , CM000665.2:g.101758119_101758128delinsCCTGAGTCAA GRCh38
NC_000003.11:g.101476963_101476972delinsCCTGAGTCAA , CM000665.1:g.101476963_101476972delinsCCTGAGTCAA GRCh37
NC_000003.10:g.102959653_102959662delinsCCTGAGTCAA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000465011.2:c.*1148_*1157delinsCCTGAGTCAA ENSP00000419009.1:n.*1148_*1157delinsCCTGAGTCAA
ENST00000467655.2:c.*600_*609delinsCCTGAGTCAA ENSP00000418547.2:n.*600_*609delinsCCTGAGTCAA
ENST00000704365.1:c.1513_1522delinsCCTGAGTCAA ENSP00000515873.1:p.Pro505=
ENST00000704366.1:c.1411_1420delinsCCTGAGTCAA ENSP00000515874.1:p.Pro471=
ENST00000704367.1:c.1234_1243delinsCCTGAGTCAA ENSP00000515875.1:p.Pro412=
ENST00000704368.1:n.2006_2015delinsCCTGAGTCAA
ENST00000704369.1:c.1027_1036delinsCCTGAGTCAA ENSP00000515876.1:p.Pro343=
ENST00000704370.1:c.1507_1516delinsCCTGAGTCAA ENSP00000515877.1:p.Pro503=
ENST00000704372.1:n.1867_1876delinsCCTGAGTCAA
ENST00000704444.1:c.1297_1306delinsCCTGAGTCAA ENSP00000515896.1:p.Pro433=
ENST00000704445.1:c.1165_1174delinsCCTGAGTCAA ENSP00000515897.1:p.Pro389=
ENST00000704446.1:c.1048+923_1048+932delinsCCTGAGTCAA ENSP00000515898.1:n.1048+923_1048+932delinsCCTGAGTCAA
ENST00000341893.8:c.1513_1522delinsCCTGAGTCAA MANE Select ENSP00000342510.3:p.Pro505=
ENST00000341893.7:c.1513_1522delinsCCTGAGTCAA ENSP00000342510.3:p.Pro505=
ENST00000467655.1:c.1128_1137delinsCCTGAGTCAA ENSP00000418547.1:n.1128_1137delinsCCTGAGTCAA
ENST00000489172.5:n.1495_1504delinsCCTGAGTCAA
ENST00000494050.5:c.1336_1345delinsCCTGAGTCAA ENSP00000418185.1:p.Pro446=
NM_001303401.1:c.1336_1345delinsCCTGAGTCAA NP_001290330.1:p.Pro446=
NM_024548.3:c.1513_1522delinsCCTGAGTCAA NP_078824.2:p.Pro505=
XM_006713743.2:c.1411_1420delinsCCTGAGTCAA XP_006713806.1:p.Pro471=
XM_011513125.1:c.1297_1306delinsCCTGAGTCAA XP_011511427.1:p.Pro433=
XM_011513126.1:c.1297_1306delinsCCTGAGTCAA XP_011511428.1:p.Pro433=
XM_011513127.1:c.1165_1174delinsCCTGAGTCAA XP_011511429.1:p.Pro389=
XM_006713743.4:c.1411_1420delinsCCTGAGTCAA XP_006713806.1:p.Pro471=
XM_017007178.2:c.1234_1243delinsCCTGAGTCAA XP_016862667.1:p.Pro412=
NM_024548.4:c.1513_1522delinsCCTGAGTCAA MANE Select NP_078824.2:p.Pro505=
NM_001303401.2:c.1336_1345delinsCCTGAGTCAA NP_001290330.1:p.Pro446=