Canonical Allele Identifier: CA2577840968
Gene: CEP97 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.101757570_101757580del , CM000665.2:g.101757570_101757580del GRCh38
NC_000003.11:g.101476414_101476424del , CM000665.1:g.101476414_101476424del GRCh37
NC_000003.10:g.102959104_102959114del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000465011.2:c.*663-64_*663-54del ENSP00000419009.1:n.*663-64_*663-54del
ENST00000467655.2:c.*115-64_*115-54del ENSP00000418547.2:n.*115-64_*115-54del
ENST00000704365.1:c.1028-64_1028-54del ENSP00000515873.1:n.1028-64_1028-54del
ENST00000704366.1:c.926-64_926-54del ENSP00000515874.1:n.926-64_926-54del
ENST00000704367.1:c.926-241_926-231del ENSP00000515875.1:n.926-241_926-231del
ENST00000704368.1:n.1457_1467del
ENST00000704369.1:c.542-64_542-54del ENSP00000515876.1:n.542-64_542-54del
ENST00000704370.1:c.1022-64_1022-54del ENSP00000515877.1:n.1022-64_1022-54del
ENST00000704372.1:n.1382-64_1382-54del
ENST00000704444.1:c.812-64_812-54del ENSP00000515896.1:n.812-64_812-54del
ENST00000704445.1:c.680-64_680-54del ENSP00000515897.1:n.680-64_680-54del
ENST00000704446.1:c.1048+374_1048+384del ENSP00000515898.1:n.1048+374_1048+384del
ENST00000341893.8:c.1028-64_1028-54del MANE Select ENSP00000342510.3:n.1028-64_1028-54del
ENST00000341893.7:c.1028-64_1028-54del ENSP00000342510.3:n.1028-64_1028-54del
ENST00000467655.1:c.643-64_643-54del ENSP00000418547.1:n.643-64_643-54del
ENST00000489172.5:n.1010-64_1010-54del
ENST00000494050.5:c.1028-241_1028-231del ENSP00000418185.1:n.1028-241_1028-231del
NM_001303401.1:c.1028-241_1028-231del NP_001290330.1:n.1028-241_1028-231del
NM_024548.3:c.1028-64_1028-54del NP_078824.2:n.1028-64_1028-54del
XM_006713743.2:c.926-64_926-54del XP_006713806.1:n.926-64_926-54del
XM_011513125.1:c.812-64_812-54del XP_011511427.1:n.812-64_812-54del
XM_011513126.1:c.812-64_812-54del XP_011511428.1:n.812-64_812-54del
XM_011513127.1:c.680-64_680-54del XP_011511429.1:n.680-64_680-54del
XM_006713743.4:c.926-64_926-54del XP_006713806.1:n.926-64_926-54del
XM_017007178.2:c.926-241_926-231del XP_016862667.1:n.926-241_926-231del
NM_024548.4:c.1028-64_1028-54del MANE Select NP_078824.2:n.1028-64_1028-54del
NM_001303401.2:c.1028-241_1028-231del NP_001290330.1:n.1028-241_1028-231del