Canonical Allele Identifier: CA1388867556

Gene: CEP97

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758154_101758169delinsGAAACCAGAAAATACA , CM000665.2:g.101758154_101758169delinsGAAACCAGAAAATACA	GRCh38
NC_000003.11:g.101476998_101477013delinsGAAACCAGAAAATACA , CM000665.1:g.101476998_101477013delinsGAAACCAGAAAATACA	GRCh37
NC_000003.10:g.102959688_102959703delinsGAAACCAGAAAATACA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1183_*1198delinsGAAACCAGAAAATACA	ENSP00000419009.1:n.*1183_*1198delinsGAAACCAGAAAATACA
ENST00000467655.2:c.*635_*650delinsGAAACCAGAAAATACA	ENSP00000418547.2:n.*635_*650delinsGAAACCAGAAAATACA
ENST00000704365.1:c.1548_1563delinsGAAACCAGAAAATACA	ENSP00000515873.1:p.Lys516=
ENST00000704366.1:c.1446_1461delinsGAAACCAGAAAATACA	ENSP00000515874.1:p.Lys482=
ENST00000704367.1:c.1269_1284delinsGAAACCAGAAAATACA	ENSP00000515875.1:p.Lys423=
ENST00000704368.1:n.2041_2056delinsGAAACCAGAAAATACA
ENST00000704369.1:c.1062_1077delinsGAAACCAGAAAATACA	ENSP00000515876.1:p.Lys354=
ENST00000704370.1:c.1542_1557delinsGAAACCAGAAAATACA	ENSP00000515877.1:p.Lys514=
ENST00000704372.1:n.1902_1917delinsGAAACCAGAAAATACA
ENST00000704444.1:c.1332_1347delinsGAAACCAGAAAATACA	ENSP00000515896.1:p.Lys444=
ENST00000704445.1:c.1200_1215delinsGAAACCAGAAAATACA	ENSP00000515897.1:p.Lys400=
ENST00000704446.1:c.1048+958_1048+973delinsGAAACCAGAAAATACA	ENSP00000515898.1:n.1048+958_1048+973delinsGAAACCAGAAAATACA
ENST00000341893.8:c.1548_1563delinsGAAACCAGAAAATACA MANE Select	ENSP00000342510.3:p.Lys516=
ENST00000341893.7:c.1548_1563delinsGAAACCAGAAAATACA	ENSP00000342510.3:p.Lys516=
ENST00000467655.1:c.1163_1178delinsGAAACCAGAAAATACA	ENSP00000418547.1:n.1163_1178delinsGAAACCAGAAAATACA
ENST00000489172.5:n.1530_1545delinsGAAACCAGAAAATACA
ENST00000494050.5:c.1371_1386delinsGAAACCAGAAAATACA	ENSP00000418185.1:p.Lys457=
NM_001303401.1:c.1371_1386delinsGAAACCAGAAAATACA	NP_001290330.1:p.Lys457=
NM_024548.3:c.1548_1563delinsGAAACCAGAAAATACA	NP_078824.2:p.Lys516=
XM_006713743.2:c.1446_1461delinsGAAACCAGAAAATACA	XP_006713806.1:p.Lys482=
XM_011513125.1:c.1332_1347delinsGAAACCAGAAAATACA	XP_011511427.1:p.Lys444=
XM_011513126.1:c.1332_1347delinsGAAACCAGAAAATACA	XP_011511428.1:p.Lys444=
XM_011513127.1:c.1200_1215delinsGAAACCAGAAAATACA	XP_011511429.1:p.Lys400=
XM_006713743.4:c.1446_1461delinsGAAACCAGAAAATACA	XP_006713806.1:p.Lys482=
XM_017007178.2:c.1269_1284delinsGAAACCAGAAAATACA	XP_016862667.1:p.Lys423=
NM_024548.4:c.1548_1563delinsGAAACCAGAAAATACA MANE Select	NP_078824.2:p.Lys516=
NM_001303401.2:c.1371_1386delinsGAAACCAGAAAATACA	NP_001290330.1:p.Lys457=