Canonical Allele Identifier: CA545494829

Gene: CEP97

Linked Data

• dbSNP Id: rs1246604793
• gnomAD v2: 3-101476999-AAACCAGAAAATACAC-A
• gnomAD v3: 3-101758155-AAACCAGAAAATACAC-A
• gnomAD v4: 3-101758155-AAACCAGAAAATACAC-A
• MyVariant Identifiers: chr3:g.101477000_101477014del (hg19) ; chr3:g.101758156_101758170del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758168_101758182del , CM000665.2:g.101758168_101758182del	GRCh38
NC_000003.11:g.101477012_101477026del , CM000665.1:g.101477012_101477026del	GRCh37
NC_000003.10:g.102959702_102959716del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1197_*1211del	ENSP00000419009.1:n.*1197_*1211del
ENST00000467655.2:c.*649_*663del	ENSP00000418547.2:n.*649_*663del
ENST00000704365.1:c.1562_1576del	ENSP00000515873.1:p.Thr521_Asn525del
ENST00000704366.1:c.1460_1474del	ENSP00000515874.1:p.Thr487_Asn491del
ENST00000704367.1:c.1283_1297del	ENSP00000515875.1:p.Thr428_Asn432del
ENST00000704368.1:n.2055_2069del
ENST00000704369.1:c.1076_1090del	ENSP00000515876.1:p.Thr359_Asn363del
ENST00000704370.1:c.1556_1570del	ENSP00000515877.1:p.Thr519_Asn523del
ENST00000704372.1:n.1916_1930del
ENST00000704444.1:c.1346_1360del	ENSP00000515896.1:p.Thr449_Asn453del
ENST00000704445.1:c.1214_1228del	ENSP00000515897.1:p.Thr405_Asn409del
ENST00000704446.1:c.1048+972_1048+986del	ENSP00000515898.1:n.1048+972_1048+986del
ENST00000341893.8:c.1562_1576del MANE Select	ENSP00000342510.3:p.Thr521_Asn525del
ENST00000341893.7:c.1562_1576del	ENSP00000342510.3:p.Thr521_Asn525del
ENST00000467655.1:c.1177_1191del	ENSP00000418547.1:n.1177_1191del
ENST00000489172.5:n.1544_1558del
ENST00000494050.5:c.1385_1399del	ENSP00000418185.1:p.Thr462_Asn466del
NM_001303401.1:c.1385_1399del	NP_001290330.1:p.Thr462_Asn466del
NM_024548.3:c.1562_1576del	NP_078824.2:p.Thr521_Asn525del
XM_006713743.2:c.1460_1474del	XP_006713806.1:p.Thr487_Asn491del
XM_011513125.1:c.1346_1360del	XP_011511427.1:p.Thr449_Asn453del
XM_011513126.1:c.1346_1360del	XP_011511428.1:p.Thr449_Asn453del
XM_011513127.1:c.1214_1228del	XP_011511429.1:p.Thr405_Asn409del
XM_006713743.4:c.1460_1474del	XP_006713806.1:p.Thr487_Asn491del
XM_017007178.2:c.1283_1297del	XP_016862667.1:p.Thr428_Asn432del
NM_024548.4:c.1562_1576del MANE Select	NP_078824.2:p.Thr521_Asn525del
NM_001303401.2:c.1385_1399del	NP_001290330.1:p.Thr462_Asn466del