Canonical Allele Identifier: CA545494818

Gene: CEP97

Linked Data

• dbSNP Id: rs1252641740
• gnomAD v2: 3-101476698-AC-A
• gnomAD v3: 3-101757854-AC-A
• gnomAD v4: 3-101757854-AC-A
• MyVariant Identifiers: chr3:g.101476699del (hg19) ; chr3:g.101757855del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757856del , CM000665.2:g.101757856del	GRCh38
NC_000003.11:g.101476700del , CM000665.1:g.101476700del	GRCh37
NC_000003.10:g.102959390del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*885del	ENSP00000419009.1:n.*885del
ENST00000467655.2:c.*337del	ENSP00000418547.2:n.*337del
ENST00000704365.1:c.1250del	ENSP00000515873.1:p.Pro417LeufsTer5
ENST00000704366.1:c.1148del	ENSP00000515874.1:p.Pro383LeufsTer5
ENST00000704367.1:c.971del	ENSP00000515875.1:p.Pro324LeufsTer5
ENST00000704368.1:n.1743del
ENST00000704369.1:c.764del	ENSP00000515876.1:p.Pro255LeufsTer5
ENST00000704370.1:c.1244del	ENSP00000515877.1:p.Pro415LeufsTer5
ENST00000704372.1:n.1604del
ENST00000704444.1:c.1034del	ENSP00000515896.1:p.Pro345LeufsTer5
ENST00000704445.1:c.902del	ENSP00000515897.1:p.Pro301LeufsTer5
ENST00000704446.1:c.1048+660del	ENSP00000515898.1:n.1048+660del
ENST00000341893.8:c.1250del MANE Select	ENSP00000342510.3:p.Pro417LeufsTer5
ENST00000341893.7:c.1250del	ENSP00000342510.3:p.Pro417LeufsTer5
ENST00000467655.1:c.865del	ENSP00000418547.1:n.865del
ENST00000489172.5:n.1232del
ENST00000494050.5:c.1073del	ENSP00000418185.1:p.Pro358LeufsTer5
NM_001303401.1:c.1073del	NP_001290330.1:p.Pro358LeufsTer5
NM_024548.3:c.1250del	NP_078824.2:p.Pro417LeufsTer5
XM_006713743.2:c.1148del	XP_006713806.1:p.Pro383LeufsTer5
XM_011513125.1:c.1034del	XP_011511427.1:p.Pro345LeufsTer5
XM_011513126.1:c.1034del	XP_011511428.1:p.Pro345LeufsTer5
XM_011513127.1:c.902del	XP_011511429.1:p.Pro301LeufsTer5
XM_006713743.4:c.1148del	XP_006713806.1:p.Pro383LeufsTer5
XM_017007178.2:c.971del	XP_016862667.1:p.Pro324LeufsTer5
NM_024548.4:c.1250del MANE Select	NP_078824.2:p.Pro417LeufsTer5
NM_001303401.2:c.1073del	NP_001290330.1:p.Pro358LeufsTer5