Canonical Allele Identifier: CA2534771212

Gene: CEP97

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757705_101757706insT , CM000665.2:g.101757705_101757706insT	GRCh38
NC_000003.11:g.101476549_101476550insT , CM000665.1:g.101476549_101476550insT	GRCh37
NC_000003.10:g.102959239_102959240insT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*734_*735insT	ENSP00000419009.1:n.*734_*735insT
ENST00000467655.2:c.*186_*187insT	ENSP00000418547.2:n.*186_*187insT
ENST00000704365.1:c.1099_1100insT	ENSP00000515873.1:p.Asn367IlefsTer15
ENST00000704366.1:c.997_998insT	ENSP00000515874.1:p.Asn333IlefsTer15
ENST00000704367.1:c.926-106_926-105insT	ENSP00000515875.1:n.926-106_926-105insT
ENST00000704368.1:n.1592_1593insT
ENST00000704369.1:c.613_614insT	ENSP00000515876.1:p.Asn205IlefsTer15
ENST00000704370.1:c.1093_1094insT	ENSP00000515877.1:p.Asn365IlefsTer15
ENST00000704372.1:n.1453_1454insT
ENST00000704444.1:c.883_884insT	ENSP00000515896.1:p.Asn295IlefsTer15
ENST00000704445.1:c.751_752insT	ENSP00000515897.1:p.Asn251IlefsTer15
ENST00000704446.1:c.1048+509_1048+510insT	ENSP00000515898.1:n.1048+509_1048+510insT
ENST00000341893.8:c.1099_1100insT MANE Select	ENSP00000342510.3:p.Asn367IlefsTer15
ENST00000341893.7:c.1099_1100insT	ENSP00000342510.3:p.Asn367IlefsTer15
ENST00000467655.1:c.714_715insT	ENSP00000418547.1:n.714_715insT
ENST00000489172.5:n.1081_1082insT
ENST00000494050.5:c.1028-106_1028-105insT	ENSP00000418185.1:n.1028-106_1028-105insT
NM_001303401.1:c.1028-106_1028-105insT	NP_001290330.1:n.1028-106_1028-105insT
NM_024548.3:c.1099_1100insT	NP_078824.2:p.Asn367IlefsTer15
XM_006713743.2:c.997_998insT	XP_006713806.1:p.Asn333IlefsTer15
XM_011513125.1:c.883_884insT	XP_011511427.1:p.Asn295IlefsTer15
XM_011513126.1:c.883_884insT	XP_011511428.1:p.Asn295IlefsTer15
XM_011513127.1:c.751_752insT	XP_011511429.1:p.Asn251IlefsTer15
XM_006713743.4:c.997_998insT	XP_006713806.1:p.Asn333IlefsTer15
XM_017007178.2:c.926-106_926-105insT	XP_016862667.1:n.926-106_926-105insT
NM_024548.4:c.1099_1100insT MANE Select	NP_078824.2:p.Asn367IlefsTer15
NM_001303401.2:c.1028-106_1028-105insT	NP_001290330.1:n.1028-106_1028-105insT