Canonical Allele Identifier: CA2522071

Gene: CEP97

Linked Data

• dbSNP Id: rs772866062
• ExAC: 3:101476564 G / GTACACA
• gnomAD v2: 3-101476564-G-GTACACA
• gnomAD v3: 3-101757720-G-GTACACA
• gnomAD v4: 3-101757720-G-GTACACA
• MyVariant Identifiers: chr3:g.101476564_101476565insTACACA (hg19) ; chr3:g.101757720_101757721insTACACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757721_101757726dup , CM000665.2:g.101757721_101757726dup	GRCh38
NC_000003.11:g.101476565_101476570dup , CM000665.1:g.101476565_101476570dup	GRCh37
NC_000003.10:g.102959255_102959260dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*750_*755dup	ENSP00000419009.1:n.*750_*755dup
ENST00000467655.2:c.*202_*207dup	ENSP00000418547.2:n.*202_*207dup
ENST00000704365.1:c.1115_1120dup	ENSP00000515873.1:p.His373_Thr374insIleHis
ENST00000704366.1:c.1013_1018dup	ENSP00000515874.1:p.His339_Thr340insIleHis
ENST00000704367.1:c.926-90_926-85dup	ENSP00000515875.1:n.926-90_926-85dup
ENST00000704368.1:n.1608_1613dup
ENST00000704369.1:c.629_634dup	ENSP00000515876.1:p.His211_Thr212insIleHis
ENST00000704370.1:c.1109_1114dup	ENSP00000515877.1:p.His371_Thr372insIleHis
ENST00000704372.1:n.1469_1474dup
ENST00000704444.1:c.899_904dup	ENSP00000515896.1:p.His301_Thr302insIleHis
ENST00000704445.1:c.767_772dup	ENSP00000515897.1:p.His257_Thr258insIleHis
ENST00000704446.1:c.1048+525_1048+530dup	ENSP00000515898.1:n.1048+525_1048+530dup
ENST00000341893.8:c.1115_1120dup MANE Select	ENSP00000342510.3:p.His373_Thr374insIleHis
ENST00000341893.7:c.1115_1120dup	ENSP00000342510.3:p.His373_Thr374insIleHis
ENST00000467655.1:c.730_735dup	ENSP00000418547.1:n.730_735dup
ENST00000489172.5:n.1097_1102dup
ENST00000494050.5:c.1028-90_1028-85dup	ENSP00000418185.1:n.1028-90_1028-85dup
NM_001303401.1:c.1028-90_1028-85dup	NP_001290330.1:n.1028-90_1028-85dup
NM_024548.3:c.1115_1120dup	NP_078824.2:p.His373_Thr374insIleHis
XM_006713743.2:c.1013_1018dup	XP_006713806.1:p.His339_Thr340insIleHis
XM_011513125.1:c.899_904dup	XP_011511427.1:p.His301_Thr302insIleHis
XM_011513126.1:c.899_904dup	XP_011511428.1:p.His301_Thr302insIleHis
XM_011513127.1:c.767_772dup	XP_011511429.1:p.His257_Thr258insIleHis
XM_006713743.4:c.1013_1018dup	XP_006713806.1:p.His339_Thr340insIleHis
XM_017007178.2:c.926-90_926-85dup	XP_016862667.1:n.926-90_926-85dup
NM_024548.4:c.1115_1120dup MANE Select	NP_078824.2:p.His373_Thr374insIleHis
NM_001303401.2:c.1028-90_1028-85dup	NP_001290330.1:n.1028-90_1028-85dup