Canonical Allele Identifier: CA2666802925

Gene: CEP97

Linked Data

• gnomAD v4: 3-101757720-GTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757721_101757722del , CM000665.2:g.101757721_101757722del	GRCh38
NC_000003.11:g.101476565_101476566del , CM000665.1:g.101476565_101476566del	GRCh37
NC_000003.10:g.102959255_102959256del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*750_*751del	ENSP00000419009.1:n.*750_*751del
ENST00000467655.2:c.*202_*203del	ENSP00000418547.2:n.*202_*203del
ENST00000704365.1:c.1115_1116del	ENSP00000515873.1:p.Val372AlafsTer9
ENST00000704366.1:c.1013_1014del	ENSP00000515874.1:p.Val338AlafsTer9
ENST00000704367.1:c.926-90_926-89del	ENSP00000515875.1:n.926-90_926-89del
ENST00000704368.1:n.1608_1609del
ENST00000704369.1:c.629_630del	ENSP00000515876.1:p.Val210AlafsTer9
ENST00000704370.1:c.1109_1110del	ENSP00000515877.1:p.Val370AlafsTer9
ENST00000704372.1:n.1469_1470del
ENST00000704444.1:c.899_900del	ENSP00000515896.1:p.Val300AlafsTer9
ENST00000704445.1:c.767_768del	ENSP00000515897.1:p.Val256AlafsTer9
ENST00000704446.1:c.1048+525_1048+526del	ENSP00000515898.1:n.1048+525_1048+526del
ENST00000341893.8:c.1115_1116del MANE Select	ENSP00000342510.3:p.Val372AlafsTer9
ENST00000341893.7:c.1115_1116del	ENSP00000342510.3:p.Val372AlafsTer9
ENST00000467655.1:c.730_731del	ENSP00000418547.1:n.730_731del
ENST00000489172.5:n.1097_1098del
ENST00000494050.5:c.1028-90_1028-89del	ENSP00000418185.1:n.1028-90_1028-89del
NM_001303401.1:c.1028-90_1028-89del	NP_001290330.1:n.1028-90_1028-89del
NM_024548.3:c.1115_1116del	NP_078824.2:p.Val372AlafsTer9
XM_006713743.2:c.1013_1014del	XP_006713806.1:p.Val338AlafsTer9
XM_011513125.1:c.899_900del	XP_011511427.1:p.Val300AlafsTer9
XM_011513126.1:c.899_900del	XP_011511428.1:p.Val300AlafsTer9
XM_011513127.1:c.767_768del	XP_011511429.1:p.Val256AlafsTer9
XM_006713743.4:c.1013_1014del	XP_006713806.1:p.Val338AlafsTer9
XM_017007178.2:c.926-90_926-89del	XP_016862667.1:n.926-90_926-89del
NM_024548.4:c.1115_1116del MANE Select	NP_078824.2:p.Val372AlafsTer9
NM_001303401.2:c.1028-90_1028-89del	NP_001290330.1:n.1028-90_1028-89del