Canonical Allele Identifier: CA2666802929

Gene: CEP97

Linked Data

• gnomAD v4: 3-101757962-G-GGA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757963_101757964dup , CM000665.2:g.101757963_101757964dup	GRCh38
NC_000003.11:g.101476807_101476808dup , CM000665.1:g.101476807_101476808dup	GRCh37
NC_000003.10:g.102959497_102959498dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*992_*993dup	ENSP00000419009.1:n.*992_*993dup
ENST00000467655.2:c.*444_*445dup	ENSP00000418547.2:n.*444_*445dup
ENST00000704365.1:c.1357_1358dup	ENSP00000515873.1:p.Gln454AsnfsTer14
ENST00000704366.1:c.1255_1256dup	ENSP00000515874.1:p.Gln420AsnfsTer14
ENST00000704367.1:c.1078_1079dup	ENSP00000515875.1:p.Gln361AsnfsTer14
ENST00000704368.1:n.1850_1851dup
ENST00000704369.1:c.871_872dup	ENSP00000515876.1:p.Gln292AsnfsTer14
ENST00000704370.1:c.1351_1352dup	ENSP00000515877.1:p.Gln452AsnfsTer14
ENST00000704372.1:n.1711_1712dup
ENST00000704444.1:c.1141_1142dup	ENSP00000515896.1:p.Gln382AsnfsTer14
ENST00000704445.1:c.1009_1010dup	ENSP00000515897.1:p.Gln338AsnfsTer14
ENST00000704446.1:c.1048+767_1048+768dup	ENSP00000515898.1:n.1048+767_1048+768dup
ENST00000341893.8:c.1357_1358dup MANE Select	ENSP00000342510.3:p.Gln454AsnfsTer14
ENST00000341893.7:c.1357_1358dup	ENSP00000342510.3:p.Gln454AsnfsTer14
ENST00000467655.1:c.972_973dup	ENSP00000418547.1:n.972_973dup
ENST00000489172.5:n.1339_1340dup
ENST00000494050.5:c.1180_1181dup	ENSP00000418185.1:p.Gln395AsnfsTer14
NM_001303401.1:c.1180_1181dup	NP_001290330.1:p.Gln395AsnfsTer14
NM_024548.3:c.1357_1358dup	NP_078824.2:p.Gln454AsnfsTer14
XM_006713743.2:c.1255_1256dup	XP_006713806.1:p.Gln420AsnfsTer14
XM_011513125.1:c.1141_1142dup	XP_011511427.1:p.Gln382AsnfsTer14
XM_011513126.1:c.1141_1142dup	XP_011511428.1:p.Gln382AsnfsTer14
XM_011513127.1:c.1009_1010dup	XP_011511429.1:p.Gln338AsnfsTer14
XM_006713743.4:c.1255_1256dup	XP_006713806.1:p.Gln420AsnfsTer14
XM_017007178.2:c.1078_1079dup	XP_016862667.1:p.Gln361AsnfsTer14
NM_024548.4:c.1357_1358dup MANE Select	NP_078824.2:p.Gln454AsnfsTer14
NM_001303401.2:c.1180_1181dup	NP_001290330.1:p.Gln395AsnfsTer14