Canonical Allele Identifier: CA2666802927

Gene: CEP97

Linked Data

• gnomAD v4: 3-101757904-ATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757905_101757906del , CM000665.2:g.101757905_101757906del	GRCh38
NC_000003.11:g.101476749_101476750del , CM000665.1:g.101476749_101476750del	GRCh37
NC_000003.10:g.102959439_102959440del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*934_*935del	ENSP00000419009.1:n.*934_*935del
ENST00000467655.2:c.*386_*387del	ENSP00000418547.2:n.*386_*387del
ENST00000704365.1:c.1299_1300del	ENSP00000515873.1:p.Asp433GlufsTer5
ENST00000704366.1:c.1197_1198del	ENSP00000515874.1:p.Asp399GlufsTer5
ENST00000704367.1:c.1020_1021del	ENSP00000515875.1:p.Asp340GlufsTer5
ENST00000704368.1:n.1792_1793del
ENST00000704369.1:c.813_814del	ENSP00000515876.1:p.Asp271GlufsTer5
ENST00000704370.1:c.1293_1294del	ENSP00000515877.1:p.Asp431GlufsTer5
ENST00000704372.1:n.1653_1654del
ENST00000704444.1:c.1083_1084del	ENSP00000515896.1:p.Asp361GlufsTer5
ENST00000704445.1:c.951_952del	ENSP00000515897.1:p.Asp317GlufsTer5
ENST00000704446.1:c.1048+709_1048+710del	ENSP00000515898.1:n.1048+709_1048+710del
ENST00000341893.8:c.1299_1300del MANE Select	ENSP00000342510.3:p.Asp433GlufsTer5
ENST00000341893.7:c.1299_1300del	ENSP00000342510.3:p.Asp433GlufsTer5
ENST00000467655.1:c.914_915del	ENSP00000418547.1:n.914_915del
ENST00000489172.5:n.1281_1282del
ENST00000494050.5:c.1122_1123del	ENSP00000418185.1:p.Asp374GlufsTer5
NM_001303401.1:c.1122_1123del	NP_001290330.1:p.Asp374GlufsTer5
NM_024548.3:c.1299_1300del	NP_078824.2:p.Asp433GlufsTer5
XM_006713743.2:c.1197_1198del	XP_006713806.1:p.Asp399GlufsTer5
XM_011513125.1:c.1083_1084del	XP_011511427.1:p.Asp361GlufsTer5
XM_011513126.1:c.1083_1084del	XP_011511428.1:p.Asp361GlufsTer5
XM_011513127.1:c.951_952del	XP_011511429.1:p.Asp317GlufsTer5
XM_006713743.4:c.1197_1198del	XP_006713806.1:p.Asp399GlufsTer5
XM_017007178.2:c.1020_1021del	XP_016862667.1:p.Asp340GlufsTer5
NM_024548.4:c.1299_1300del MANE Select	NP_078824.2:p.Asp433GlufsTer5
NM_001303401.2:c.1122_1123del	NP_001290330.1:p.Asp374GlufsTer5