Canonical Allele Identifier: CA2666802926

Gene: CEP97

Linked Data

• gnomAD v4: 3-101757846-C-CAGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757846_101757847insAGTG , CM000665.2:g.101757846_101757847insAGTG	GRCh38
NC_000003.11:g.101476690_101476691insAGTG , CM000665.1:g.101476690_101476691insAGTG	GRCh37
NC_000003.10:g.102959380_102959381insAGTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*875_*876insAGTG	ENSP00000419009.1:n.*875_*876insAGTG
ENST00000467655.2:c.*327_*328insAGTG	ENSP00000418547.2:n.*327_*328insAGTG
ENST00000704365.1:c.1240_1241insAGTG	ENSP00000515873.1:p.Pro414GlnfsTer8
ENST00000704366.1:c.1138_1139insAGTG	ENSP00000515874.1:p.Pro380GlnfsTer8
ENST00000704367.1:c.961_962insAGTG	ENSP00000515875.1:p.Pro321GlnfsTer8
ENST00000704368.1:n.1733_1734insAGTG
ENST00000704369.1:c.754_755insAGTG	ENSP00000515876.1:p.Pro252GlnfsTer8
ENST00000704370.1:c.1234_1235insAGTG	ENSP00000515877.1:p.Pro412GlnfsTer8
ENST00000704372.1:n.1594_1595insAGTG
ENST00000704444.1:c.1024_1025insAGTG	ENSP00000515896.1:p.Pro342GlnfsTer8
ENST00000704445.1:c.892_893insAGTG	ENSP00000515897.1:p.Pro298GlnfsTer8
ENST00000704446.1:c.1048+650_1048+651insAGTG	ENSP00000515898.1:n.1048+650_1048+651insAGTG
ENST00000341893.8:c.1240_1241insAGTG MANE Select	ENSP00000342510.3:p.Pro414GlnfsTer8
ENST00000341893.7:c.1240_1241insAGTG	ENSP00000342510.3:p.Pro414GlnfsTer8
ENST00000467655.1:c.855_856insAGTG	ENSP00000418547.1:n.855_856insAGTG
ENST00000489172.5:n.1222_1223insAGTG
ENST00000494050.5:c.1063_1064insAGTG	ENSP00000418185.1:p.Pro355GlnfsTer8
NM_001303401.1:c.1063_1064insAGTG	NP_001290330.1:p.Pro355GlnfsTer8
NM_024548.3:c.1240_1241insAGTG	NP_078824.2:p.Pro414GlnfsTer8
XM_006713743.2:c.1138_1139insAGTG	XP_006713806.1:p.Pro380GlnfsTer8
XM_011513125.1:c.1024_1025insAGTG	XP_011511427.1:p.Pro342GlnfsTer8
XM_011513126.1:c.1024_1025insAGTG	XP_011511428.1:p.Pro342GlnfsTer8
XM_011513127.1:c.892_893insAGTG	XP_011511429.1:p.Pro298GlnfsTer8
XM_006713743.4:c.1138_1139insAGTG	XP_006713806.1:p.Pro380GlnfsTer8
XM_017007178.2:c.961_962insAGTG	XP_016862667.1:p.Pro321GlnfsTer8
NM_024548.4:c.1240_1241insAGTG MANE Select	NP_078824.2:p.Pro414GlnfsTer8
NM_001303401.2:c.1063_1064insAGTG	NP_001290330.1:p.Pro355GlnfsTer8