Canonical Allele Identifier: CA2522145

Gene: CEP97

Linked Data

• dbSNP Id: rs751137660
• ExAC: 3:101477010 T / TA
• gnomAD v2: 3-101477010-T-TA
• gnomAD v3: 3-101758166-T-TA
• gnomAD v4: 3-101758166-T-TA
• MyVariant Identifiers: chr3:g.101477010_101477011insA (hg19) ; chr3:g.101758166_101758167insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758167dup , CM000665.2:g.101758167dup	GRCh38
NC_000003.11:g.101477011dup , CM000665.1:g.101477011dup	GRCh37
NC_000003.10:g.102959701dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1196dup	ENSP00000419009.1:n.*1196dup
ENST00000467655.2:c.*648dup	ENSP00000418547.2:n.*648dup
ENST00000704365.1:c.1561dup	ENSP00000515873.1:p.Thr521AsnfsTer6
ENST00000704366.1:c.1459dup	ENSP00000515874.1:p.Thr487AsnfsTer6
ENST00000704367.1:c.1282dup	ENSP00000515875.1:p.Thr428AsnfsTer6
ENST00000704368.1:n.2054dup
ENST00000704369.1:c.1075dup	ENSP00000515876.1:p.Thr359AsnfsTer6
ENST00000704370.1:c.1555dup	ENSP00000515877.1:p.Thr519AsnfsTer6
ENST00000704372.1:n.1915dup
ENST00000704444.1:c.1345dup	ENSP00000515896.1:p.Thr449AsnfsTer6
ENST00000704445.1:c.1213dup	ENSP00000515897.1:p.Thr405AsnfsTer6
ENST00000704446.1:c.1048+971dup	ENSP00000515898.1:n.1048+971dup
ENST00000341893.8:c.1561dup MANE Select	ENSP00000342510.3:p.Thr521AsnfsTer6
ENST00000341893.7:c.1561dup	ENSP00000342510.3:p.Thr521AsnfsTer6
ENST00000467655.1:c.1176dup	ENSP00000418547.1:n.1176dup
ENST00000489172.5:n.1543dup
ENST00000494050.5:c.1384dup	ENSP00000418185.1:p.Thr462AsnfsTer6
NM_001303401.1:c.1384dup	NP_001290330.1:p.Thr462AsnfsTer6
NM_024548.3:c.1561dup	NP_078824.2:p.Thr521AsnfsTer6
XM_006713743.2:c.1459dup	XP_006713806.1:p.Thr487AsnfsTer6
XM_011513125.1:c.1345dup	XP_011511427.1:p.Thr449AsnfsTer6
XM_011513126.1:c.1345dup	XP_011511428.1:p.Thr449AsnfsTer6
XM_011513127.1:c.1213dup	XP_011511429.1:p.Thr405AsnfsTer6
XM_006713743.4:c.1459dup	XP_006713806.1:p.Thr487AsnfsTer6
XM_017007178.2:c.1282dup	XP_016862667.1:p.Thr428AsnfsTer6
NM_024548.4:c.1561dup MANE Select	NP_078824.2:p.Thr521AsnfsTer6
NM_001303401.2:c.1384dup	NP_001290330.1:p.Thr462AsnfsTer6