Canonical Allele Identifier: CA2666802896

Gene: CEP97

Linked Data

• gnomAD v4: 3-101757562-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757562G>T , CM000665.2:g.101757562G>T	GRCh38
NC_000003.11:g.101476406G>T , CM000665.1:g.101476406G>T	GRCh37
NC_000003.10:g.102959096G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*663-72G>T	ENSP00000419009.1:n.*663-72G>T
ENST00000467655.2:c.*115-72G>T	ENSP00000418547.2:n.*115-72G>T
ENST00000704365.1:c.1028-72G>T	ENSP00000515873.1:n.1028-72G>T
ENST00000704366.1:c.926-72G>T	ENSP00000515874.1:n.926-72G>T
ENST00000704367.1:c.926-249G>T	ENSP00000515875.1:n.926-249G>T
ENST00000704368.1:n.1449G>T
ENST00000704369.1:c.542-72G>T	ENSP00000515876.1:n.542-72G>T
ENST00000704370.1:c.1022-72G>T	ENSP00000515877.1:n.1022-72G>T
ENST00000704372.1:n.1382-72G>T
ENST00000704444.1:c.812-72G>T	ENSP00000515896.1:n.812-72G>T
ENST00000704445.1:c.680-72G>T	ENSP00000515897.1:n.680-72G>T
ENST00000704446.1:c.1048+366G>T	ENSP00000515898.1:n.1048+366G>T
ENST00000341893.8:c.1028-72G>T MANE Select	ENSP00000342510.3:n.1028-72G>T
ENST00000341893.7:c.1028-72G>T	ENSP00000342510.3:n.1028-72G>T
ENST00000467655.1:c.643-72G>T	ENSP00000418547.1:n.643-72G>T
ENST00000489172.5:n.1010-72G>T
ENST00000494050.5:c.1028-249G>T	ENSP00000418185.1:n.1028-249G>T
NM_001303401.1:c.1028-249G>T	NP_001290330.1:n.1028-249G>T
NM_024548.3:c.1028-72G>T	NP_078824.2:n.1028-72G>T
XM_006713743.2:c.926-72G>T	XP_006713806.1:n.926-72G>T
XM_011513125.1:c.812-72G>T	XP_011511427.1:n.812-72G>T
XM_011513126.1:c.812-72G>T	XP_011511428.1:n.812-72G>T
XM_011513127.1:c.680-72G>T	XP_011511429.1:n.680-72G>T
XM_006713743.4:c.926-72G>T	XP_006713806.1:n.926-72G>T
XM_017007178.2:c.926-249G>T	XP_016862667.1:n.926-249G>T
NM_024548.4:c.1028-72G>T MANE Select	NP_078824.2:n.1028-72G>T
NM_001303401.2:c.1028-249G>T	NP_001290330.1:n.1028-249G>T