Canonical Allele Identifier: CA1388867530

Gene: CEP97

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758091_101758094delinsGGAT , CM000665.2:g.101758091_101758094delinsGGAT	GRCh38
NC_000003.11:g.101476935_101476938delinsGGAT , CM000665.1:g.101476935_101476938delinsGGAT	GRCh37
NC_000003.10:g.102959625_102959628delinsGGAT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1120_*1123delinsGGAT	ENSP00000419009.1:n.*1120_*1123delinsGGAT
ENST00000467655.2:c.*572_*575delinsGGAT	ENSP00000418547.2:n.*572_*575delinsGGAT
ENST00000704365.1:c.1485_1488delinsGGAT	ENSP00000515873.1:p.Lys495=
ENST00000704366.1:c.1383_1386delinsGGAT	ENSP00000515874.1:p.Lys461=
ENST00000704367.1:c.1206_1209delinsGGAT	ENSP00000515875.1:p.Lys402=
ENST00000704368.1:n.1978_1981delinsGGAT
ENST00000704369.1:c.999_1002delinsGGAT	ENSP00000515876.1:p.Lys333=
ENST00000704370.1:c.1479_1482delinsGGAT	ENSP00000515877.1:p.Lys493=
ENST00000704372.1:n.1839_1842delinsGGAT
ENST00000704444.1:c.1269_1272delinsGGAT	ENSP00000515896.1:p.Lys423=
ENST00000704445.1:c.1137_1140delinsGGAT	ENSP00000515897.1:p.Lys379=
ENST00000704446.1:c.1048+895_1048+898delinsGGAT	ENSP00000515898.1:n.1048+895_1048+898delinsGGAT
ENST00000341893.8:c.1485_1488delinsGGAT MANE Select	ENSP00000342510.3:p.Lys495=
ENST00000341893.7:c.1485_1488delinsGGAT	ENSP00000342510.3:p.Lys495=
ENST00000467655.1:c.1100_1103delinsGGAT	ENSP00000418547.1:n.1100_1103delinsGGAT
ENST00000489172.5:n.1467_1470delinsGGAT
ENST00000494050.5:c.1308_1311delinsGGAT	ENSP00000418185.1:p.Lys436=
NM_001303401.1:c.1308_1311delinsGGAT	NP_001290330.1:p.Lys436=
NM_024548.3:c.1485_1488delinsGGAT	NP_078824.2:p.Lys495=
XM_006713743.2:c.1383_1386delinsGGAT	XP_006713806.1:p.Lys461=
XM_011513125.1:c.1269_1272delinsGGAT	XP_011511427.1:p.Lys423=
XM_011513126.1:c.1269_1272delinsGGAT	XP_011511428.1:p.Lys423=
XM_011513127.1:c.1137_1140delinsGGAT	XP_011511429.1:p.Lys379=
XM_006713743.4:c.1383_1386delinsGGAT	XP_006713806.1:p.Lys461=
XM_017007178.2:c.1206_1209delinsGGAT	XP_016862667.1:p.Lys402=
NM_024548.4:c.1485_1488delinsGGAT MANE Select	NP_078824.2:p.Lys495=
NM_001303401.2:c.1308_1311delinsGGAT	NP_001290330.1:p.Lys436=