Canonical Allele Identifier: CA545494827

Gene: CEP97

Linked Data

• dbSNP Id: rs1463702760
• gnomAD v2: 3-101476963-CCTGAGTCAA-C
• gnomAD v4: 3-101758119-CCTGAGTCAA-C
• MyVariant Identifiers: chr3:g.101476964_101476972del (hg19) ; chr3:g.101758120_101758128del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758125_101758133del , CM000665.2:g.101758125_101758133del	GRCh38
NC_000003.11:g.101476969_101476977del , CM000665.1:g.101476969_101476977del	GRCh37
NC_000003.10:g.102959659_102959667del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1154_*1162del	ENSP00000419009.1:n.*1154_*1162del
ENST00000467655.2:c.*606_*614del	ENSP00000418547.2:n.*606_*614del
ENST00000704365.1:c.1519_1527del	ENSP00000515873.1:p.Ser507_Glu509del
ENST00000704366.1:c.1417_1425del	ENSP00000515874.1:p.Ser473_Glu475del
ENST00000704367.1:c.1240_1248del	ENSP00000515875.1:p.Ser414_Glu416del
ENST00000704368.1:n.2012_2020del
ENST00000704369.1:c.1033_1041del	ENSP00000515876.1:p.Ser345_Glu347del
ENST00000704370.1:c.1513_1521del	ENSP00000515877.1:p.Ser505_Glu507del
ENST00000704372.1:n.1873_1881del
ENST00000704444.1:c.1303_1311del	ENSP00000515896.1:p.Ser435_Glu437del
ENST00000704445.1:c.1171_1179del	ENSP00000515897.1:p.Ser391_Glu393del
ENST00000704446.1:c.1048+929_1048+937del	ENSP00000515898.1:n.1048+929_1048+937del
ENST00000341893.8:c.1519_1527del MANE Select	ENSP00000342510.3:p.Ser507_Glu509del
ENST00000341893.7:c.1519_1527del	ENSP00000342510.3:p.Ser507_Glu509del
ENST00000467655.1:c.1134_1142del	ENSP00000418547.1:n.1134_1142del
ENST00000489172.5:n.1501_1509del
ENST00000494050.5:c.1342_1350del	ENSP00000418185.1:p.Ser448_Glu450del
NM_001303401.1:c.1342_1350del	NP_001290330.1:p.Ser448_Glu450del
NM_024548.3:c.1519_1527del	NP_078824.2:p.Ser507_Glu509del
XM_006713743.2:c.1417_1425del	XP_006713806.1:p.Ser473_Glu475del
XM_011513125.1:c.1303_1311del	XP_011511427.1:p.Ser435_Glu437del
XM_011513126.1:c.1303_1311del	XP_011511428.1:p.Ser435_Glu437del
XM_011513127.1:c.1171_1179del	XP_011511429.1:p.Ser391_Glu393del
XM_006713743.4:c.1417_1425del	XP_006713806.1:p.Ser473_Glu475del
XM_017007178.2:c.1240_1248del	XP_016862667.1:p.Ser414_Glu416del
NM_024548.4:c.1519_1527del MANE Select	NP_078824.2:p.Ser507_Glu509del
NM_001303401.2:c.1342_1350del	NP_001290330.1:p.Ser448_Glu450del