Canonical Allele Identifier: CA2577840976
Gene: CEP97 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.101757785_101757786del , CM000665.2:g.101757785_101757786del GRCh38
NC_000003.11:g.101476629_101476630del , CM000665.1:g.101476629_101476630del GRCh37
NC_000003.10:g.102959319_102959320del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000465011.2:c.*814_*815del ENSP00000419009.1:n.*814_*815del
ENST00000467655.2:c.*266_*267del ENSP00000418547.2:n.*266_*267del
ENST00000704365.1:c.1179_1180del ENSP00000515873.1:p.Lys393AsnfsTer4
ENST00000704366.1:c.1077_1078del ENSP00000515874.1:p.Lys359AsnfsTer4
ENST00000704367.1:c.926-26_926-25del ENSP00000515875.1:n.926-26_926-25del
ENST00000704368.1:n.1672_1673del
ENST00000704369.1:c.693_694del ENSP00000515876.1:p.Lys231AsnfsTer4
ENST00000704370.1:c.1173_1174del ENSP00000515877.1:p.Lys391AsnfsTer4
ENST00000704372.1:n.1533_1534del
ENST00000704444.1:c.963_964del ENSP00000515896.1:p.Lys321AsnfsTer4
ENST00000704445.1:c.831_832del ENSP00000515897.1:p.Lys277AsnfsTer4
ENST00000704446.1:c.1048+589_1048+590del ENSP00000515898.1:n.1048+589_1048+590del
ENST00000341893.8:c.1179_1180del MANE Select ENSP00000342510.3:p.Lys393AsnfsTer4
ENST00000341893.7:c.1179_1180del ENSP00000342510.3:p.Lys393AsnfsTer4
ENST00000467655.1:c.794_795del ENSP00000418547.1:n.794_795del
ENST00000489172.5:n.1161_1162del
ENST00000494050.5:c.1028-26_1028-25del ENSP00000418185.1:n.1028-26_1028-25del
NM_001303401.1:c.1028-26_1028-25del NP_001290330.1:n.1028-26_1028-25del
NM_024548.3:c.1179_1180del NP_078824.2:p.Lys393AsnfsTer4
XM_006713743.2:c.1077_1078del XP_006713806.1:p.Lys359AsnfsTer4
XM_011513125.1:c.963_964del XP_011511427.1:p.Lys321AsnfsTer4
XM_011513126.1:c.963_964del XP_011511428.1:p.Lys321AsnfsTer4
XM_011513127.1:c.831_832del XP_011511429.1:p.Lys277AsnfsTer4
XM_006713743.4:c.1077_1078del XP_006713806.1:p.Lys359AsnfsTer4
XM_017007178.2:c.926-26_926-25del XP_016862667.1:n.926-26_926-25del
NM_024548.4:c.1179_1180del MANE Select NP_078824.2:p.Lys393AsnfsTer4
NM_001303401.2:c.1028-26_1028-25del NP_001290330.1:n.1028-26_1028-25del