Canonical Allele Identifier: CA1388867531

Gene: CEP97

Linked Data

• dbSNP Id: rs1939067908
• gnomAD v4: 3-101758091-GGAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758095_101758097del , CM000665.2:g.101758095_101758097del	GRCh38
NC_000003.11:g.101476939_101476941del , CM000665.1:g.101476939_101476941del	GRCh37
NC_000003.10:g.102959629_102959631del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1124_*1126del	ENSP00000419009.1:n.*1124_*1126del
ENST00000467655.2:c.*576_*578del	ENSP00000418547.2:n.*576_*578del
ENST00000704365.1:c.1489_1491del	ENSP00000515873.1:p.Asp497del
ENST00000704366.1:c.1387_1389del	ENSP00000515874.1:p.Asp463del
ENST00000704367.1:c.1210_1212del	ENSP00000515875.1:p.Asp404del
ENST00000704368.1:n.1982_1984del
ENST00000704369.1:c.1003_1005del	ENSP00000515876.1:p.Asp335del
ENST00000704370.1:c.1483_1485del	ENSP00000515877.1:p.Asp495del
ENST00000704372.1:n.1843_1845del
ENST00000704444.1:c.1273_1275del	ENSP00000515896.1:p.Asp425del
ENST00000704445.1:c.1141_1143del	ENSP00000515897.1:p.Asp381del
ENST00000704446.1:c.1048+899_1048+901del	ENSP00000515898.1:n.1048+899_1048+901del
ENST00000341893.8:c.1489_1491del MANE Select	ENSP00000342510.3:p.Asp497del
ENST00000341893.7:c.1489_1491del	ENSP00000342510.3:p.Asp497del
ENST00000467655.1:c.1104_1106del	ENSP00000418547.1:n.1104_1106del
ENST00000489172.5:n.1471_1473del
ENST00000494050.5:c.1312_1314del	ENSP00000418185.1:p.Asp438del
NM_001303401.1:c.1312_1314del	NP_001290330.1:p.Asp438del
NM_024548.3:c.1489_1491del	NP_078824.2:p.Asp497del
XM_006713743.2:c.1387_1389del	XP_006713806.1:p.Asp463del
XM_011513125.1:c.1273_1275del	XP_011511427.1:p.Asp425del
XM_011513126.1:c.1273_1275del	XP_011511428.1:p.Asp425del
XM_011513127.1:c.1141_1143del	XP_011511429.1:p.Asp381del
XM_006713743.4:c.1387_1389del	XP_006713806.1:p.Asp463del
XM_017007178.2:c.1210_1212del	XP_016862667.1:p.Asp404del
NM_024548.4:c.1489_1491del MANE Select	NP_078824.2:p.Asp497del
NM_001303401.2:c.1312_1314del	NP_001290330.1:p.Asp438del