Canonical Allele Identifier: CA1388867373
Gene: CEP97 HGNC NCBI

Linked Data

dbSNP Id: rs1939048218

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.101757686_101757688dup , CM000665.2:g.101757686_101757688dup GRCh38
NC_000003.11:g.101476530_101476532dup , CM000665.1:g.101476530_101476532dup GRCh37
NC_000003.10:g.102959220_102959222dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000465011.2:c.*715_*717dup ENSP00000419009.1:n.*715_*717dup
ENST00000467655.2:c.*167_*169dup ENSP00000418547.2:n.*167_*169dup
ENST00000704365.1:c.1080_1082dup ENSP00000515873.1:p.Leu361_Phe362insLeu
ENST00000704366.1:c.978_980dup ENSP00000515874.1:p.Leu327_Phe328insLeu
ENST00000704367.1:c.926-125_926-123dup ENSP00000515875.1:n.926-125_926-123dup
ENST00000704368.1:n.1573_1575dup
ENST00000704369.1:c.594_596dup ENSP00000515876.1:p.Leu199_Phe200insLeu
ENST00000704370.1:c.1074_1076dup ENSP00000515877.1:p.Leu359_Phe360insLeu
ENST00000704372.1:n.1434_1436dup
ENST00000704444.1:c.864_866dup ENSP00000515896.1:p.Leu289_Phe290insLeu
ENST00000704445.1:c.732_734dup ENSP00000515897.1:p.Leu245_Phe246insLeu
ENST00000704446.1:c.1048+490_1048+492dup ENSP00000515898.1:n.1048+490_1048+492dup
ENST00000341893.8:c.1080_1082dup MANE Select ENSP00000342510.3:p.Leu361_Phe362insLeu
ENST00000341893.7:c.1080_1082dup ENSP00000342510.3:p.Leu361_Phe362insLeu
ENST00000467655.1:c.695_697dup ENSP00000418547.1:n.695_697dup
ENST00000489172.5:n.1062_1064dup
ENST00000494050.5:c.1028-125_1028-123dup ENSP00000418185.1:n.1028-125_1028-123dup
NM_001303401.1:c.1028-125_1028-123dup NP_001290330.1:n.1028-125_1028-123dup
NM_024548.3:c.1080_1082dup NP_078824.2:p.Leu361_Phe362insLeu
XM_006713743.2:c.978_980dup XP_006713806.1:p.Leu327_Phe328insLeu
XM_011513125.1:c.864_866dup XP_011511427.1:p.Leu289_Phe290insLeu
XM_011513126.1:c.864_866dup XP_011511428.1:p.Leu289_Phe290insLeu
XM_011513127.1:c.732_734dup XP_011511429.1:p.Leu245_Phe246insLeu
XM_006713743.4:c.978_980dup XP_006713806.1:p.Leu327_Phe328insLeu
XM_017007178.2:c.926-125_926-123dup XP_016862667.1:n.926-125_926-123dup
NM_024548.4:c.1080_1082dup MANE Select NP_078824.2:p.Leu361_Phe362insLeu
NM_001303401.2:c.1028-125_1028-123dup NP_001290330.1:n.1028-125_1028-123dup