Canonical Allele Identifier: CA1388867558

Gene: CEP97

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758155_101758170delinsAAACCAGAAAATACAC , CM000665.2:g.101758155_101758170delinsAAACCAGAAAATACAC	GRCh38
NC_000003.11:g.101476999_101477014delinsAAACCAGAAAATACAC , CM000665.1:g.101476999_101477014delinsAAACCAGAAAATACAC	GRCh37
NC_000003.10:g.102959689_102959704delinsAAACCAGAAAATACAC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1184_*1199delinsAAACCAGAAAATACAC	ENSP00000419009.1:n.*1184_*1199delinsAAACCAGAAAATACAC
ENST00000467655.2:c.*636_*651delinsAAACCAGAAAATACAC	ENSP00000418547.2:n.*636_*651delinsAAACCAGAAAATACAC
ENST00000704365.1:c.1549_1564delinsAAACCAGAAAATACAC	ENSP00000515873.1:p.Lys517=
ENST00000704366.1:c.1447_1462delinsAAACCAGAAAATACAC	ENSP00000515874.1:p.Lys483=
ENST00000704367.1:c.1270_1285delinsAAACCAGAAAATACAC	ENSP00000515875.1:p.Lys424=
ENST00000704368.1:n.2042_2057delinsAAACCAGAAAATACAC
ENST00000704369.1:c.1063_1078delinsAAACCAGAAAATACAC	ENSP00000515876.1:p.Lys355=
ENST00000704370.1:c.1543_1558delinsAAACCAGAAAATACAC	ENSP00000515877.1:p.Lys515=
ENST00000704372.1:n.1903_1918delinsAAACCAGAAAATACAC
ENST00000704444.1:c.1333_1348delinsAAACCAGAAAATACAC	ENSP00000515896.1:p.Lys445=
ENST00000704445.1:c.1201_1216delinsAAACCAGAAAATACAC	ENSP00000515897.1:p.Lys401=
ENST00000704446.1:c.1048+959_1048+974delinsAAACCAGAAAATACAC	ENSP00000515898.1:n.1048+959_1048+974delinsAAACCAGAAAATACAC
ENST00000341893.8:c.1549_1564delinsAAACCAGAAAATACAC MANE Select	ENSP00000342510.3:p.Lys517=
ENST00000341893.7:c.1549_1564delinsAAACCAGAAAATACAC	ENSP00000342510.3:p.Lys517=
ENST00000467655.1:c.1164_1179delinsAAACCAGAAAATACAC	ENSP00000418547.1:n.1164_1179delinsAAACCAGAAAATACAC
ENST00000489172.5:n.1531_1546delinsAAACCAGAAAATACAC
ENST00000494050.5:c.1372_1387delinsAAACCAGAAAATACAC	ENSP00000418185.1:p.Lys458=
NM_001303401.1:c.1372_1387delinsAAACCAGAAAATACAC	NP_001290330.1:p.Lys458=
NM_024548.3:c.1549_1564delinsAAACCAGAAAATACAC	NP_078824.2:p.Lys517=
XM_006713743.2:c.1447_1462delinsAAACCAGAAAATACAC	XP_006713806.1:p.Lys483=
XM_011513125.1:c.1333_1348delinsAAACCAGAAAATACAC	XP_011511427.1:p.Lys445=
XM_011513126.1:c.1333_1348delinsAAACCAGAAAATACAC	XP_011511428.1:p.Lys445=
XM_011513127.1:c.1201_1216delinsAAACCAGAAAATACAC	XP_011511429.1:p.Lys401=
XM_006713743.4:c.1447_1462delinsAAACCAGAAAATACAC	XP_006713806.1:p.Lys483=
XM_017007178.2:c.1270_1285delinsAAACCAGAAAATACAC	XP_016862667.1:p.Lys424=
NM_024548.4:c.1549_1564delinsAAACCAGAAAATACAC MANE Select	NP_078824.2:p.Lys517=
NM_001303401.2:c.1372_1387delinsAAACCAGAAAATACAC	NP_001290330.1:p.Lys458=