Canonical Allele Identifier: CA2522114

Gene: CEP97

Linked Data

• dbSNP Id: rs765949623
• ExAC: 3:101476805 AG / A
• gnomAD v2: 3-101476805-AG-A
• gnomAD v3: 3-101757961-AG-A
• gnomAD v4: 3-101757961-AG-A
• MyVariant Identifiers: chr3:g.101476806del (hg19) ; chr3:g.101757962del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757963del , CM000665.2:g.101757963del	GRCh38
NC_000003.11:g.101476807del , CM000665.1:g.101476807del	GRCh37
NC_000003.10:g.102959497del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*992del	ENSP00000419009.1:n.*992del
ENST00000467655.2:c.*444del	ENSP00000418547.2:n.*444del
ENST00000704365.1:c.1357del	ENSP00000515873.1:p.Glu453AsnfsTer14
ENST00000704366.1:c.1255del	ENSP00000515874.1:p.Glu419AsnfsTer14
ENST00000704367.1:c.1078del	ENSP00000515875.1:p.Glu360AsnfsTer14
ENST00000704368.1:n.1850del
ENST00000704369.1:c.871del	ENSP00000515876.1:p.Glu291AsnfsTer14
ENST00000704370.1:c.1351del	ENSP00000515877.1:p.Glu451AsnfsTer14
ENST00000704372.1:n.1711del
ENST00000704444.1:c.1141del	ENSP00000515896.1:p.Glu381AsnfsTer14
ENST00000704445.1:c.1009del	ENSP00000515897.1:p.Glu337AsnfsTer14
ENST00000704446.1:c.1048+767del	ENSP00000515898.1:n.1048+767del
ENST00000341893.8:c.1357del MANE Select	ENSP00000342510.3:p.Glu453AsnfsTer14
ENST00000341893.7:c.1357del	ENSP00000342510.3:p.Glu453AsnfsTer14
ENST00000467655.1:c.972del	ENSP00000418547.1:n.972del
ENST00000489172.5:n.1339del
ENST00000494050.5:c.1180del	ENSP00000418185.1:p.Glu394AsnfsTer14
NM_001303401.1:c.1180del	NP_001290330.1:p.Glu394AsnfsTer14
NM_024548.3:c.1357del	NP_078824.2:p.Glu453AsnfsTer14
XM_006713743.2:c.1255del	XP_006713806.1:p.Glu419AsnfsTer14
XM_011513125.1:c.1141del	XP_011511427.1:p.Glu381AsnfsTer14
XM_011513126.1:c.1141del	XP_011511428.1:p.Glu381AsnfsTer14
XM_011513127.1:c.1009del	XP_011511429.1:p.Glu337AsnfsTer14
XM_006713743.4:c.1255del	XP_006713806.1:p.Glu419AsnfsTer14
XM_017007178.2:c.1078del	XP_016862667.1:p.Glu360AsnfsTer14
NM_024548.4:c.1357del MANE Select	NP_078824.2:p.Glu453AsnfsTer14
NM_001303401.2:c.1180del	NP_001290330.1:p.Glu394AsnfsTer14