Canonical Allele Identifier: CA545494828

Gene: CEP97

Linked Data

• dbSNP Id: rs1473149653
• gnomAD v2: 3-101476994-TAAAG-T
• gnomAD v4: 3-101758150-TAAAG-T
• MyVariant Identifiers: chr3:g.101476995_101476998del (hg19) ; chr3:g.101758151_101758154del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758154_101758157del , CM000665.2:g.101758154_101758157del	GRCh38
NC_000003.11:g.101476998_101477001del , CM000665.1:g.101476998_101477001del	GRCh37
NC_000003.10:g.102959688_102959691del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1183_*1186del	ENSP00000419009.1:n.*1183_*1186del
ENST00000467655.2:c.*635_*638del	ENSP00000418547.2:n.*635_*638del
ENST00000704365.1:c.1548_1551del	ENSP00000515873.1:p.Lys516AsnfsTer23
ENST00000704366.1:c.1446_1449del	ENSP00000515874.1:p.Lys482AsnfsTer23
ENST00000704367.1:c.1269_1272del	ENSP00000515875.1:p.Lys423AsnfsTer23
ENST00000704368.1:n.2041_2044del
ENST00000704369.1:c.1062_1065del	ENSP00000515876.1:p.Lys354AsnfsTer23
ENST00000704370.1:c.1542_1545del	ENSP00000515877.1:p.Lys514AsnfsTer23
ENST00000704372.1:n.1902_1905del
ENST00000704444.1:c.1332_1335del	ENSP00000515896.1:p.Lys444AsnfsTer23
ENST00000704445.1:c.1200_1203del	ENSP00000515897.1:p.Lys400AsnfsTer23
ENST00000704446.1:c.1048+958_1048+961del	ENSP00000515898.1:n.1048+958_1048+961del
ENST00000341893.8:c.1548_1551del MANE Select	ENSP00000342510.3:p.Lys516AsnfsTer23
ENST00000341893.7:c.1548_1551del	ENSP00000342510.3:p.Lys516AsnfsTer23
ENST00000467655.1:c.1163_1166del	ENSP00000418547.1:n.1163_1166del
ENST00000489172.5:n.1530_1533del
ENST00000494050.5:c.1371_1374del	ENSP00000418185.1:p.Lys457AsnfsTer23
NM_001303401.1:c.1371_1374del	NP_001290330.1:p.Lys457AsnfsTer23
NM_024548.3:c.1548_1551del	NP_078824.2:p.Lys516AsnfsTer23
XM_006713743.2:c.1446_1449del	XP_006713806.1:p.Lys482AsnfsTer23
XM_011513125.1:c.1332_1335del	XP_011511427.1:p.Lys444AsnfsTer23
XM_011513126.1:c.1332_1335del	XP_011511428.1:p.Lys444AsnfsTer23
XM_011513127.1:c.1200_1203del	XP_011511429.1:p.Lys400AsnfsTer23
XM_006713743.4:c.1446_1449del	XP_006713806.1:p.Lys482AsnfsTer23
XM_017007178.2:c.1269_1272del	XP_016862667.1:p.Lys423AsnfsTer23
NM_024548.4:c.1548_1551del MANE Select	NP_078824.2:p.Lys516AsnfsTer23
NM_001303401.2:c.1371_1374del	NP_001290330.1:p.Lys457AsnfsTer23