Canonical Allele Identifier: CA279481
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 217638
ClinVar RCV Id: RCV000201682
dbSNP Id: rs863225189
gnomAD v3: 12-88093893-CA-C
gnomAD v4: 12-88093893-CA-C
MyVariant Identifiers: chr12:g.88487671del (hg19) chr12:g.88093894del (hg38)
PubMed: PMID:26092869
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88093894del , CM000674.2:g.88093894del GRCh38
NC_000012.11:g.88487671del , CM000674.1:g.88487671del GRCh37
NC_000012.10:g.87011802del NCBI36
NG_008417.1:g.53323del
NG_008417.2:g.53323del

Transcript Alleles

HGVS Amino-acid change
ENST00000309041.12:c.3185del ENSP00000308021.8:p.Leu1062ArgfsTer3
ENST00000547691.8:c.469del
ENST00000552810.6:c.3185del MANE Select ENSP00000448012.1:p.Leu1062ArgfsTer3
ENST00000672414.2:c.*1356del ENSP00000500729.1:n.*1356del
ENST00000672647.1:n.1545del
ENST00000673058.2:c.3185del ENSP00000500665.2:p.Leu1062ArgfsTer3
ENST00000674971.1:c.3185del ENSP00000502194.1:p.Leu1062ArgfsTer3
ENST00000675089.1:c.286+2994del ENSP00000501582.1:n.286+2994del
ENST00000675230.1:c.3164del ENSP00000502503.1:p.Leu1055ArgfsTer3
ENST00000675408.1:c.3185del ENSP00000502298.1:p.Leu1062ArgfsTer3
ENST00000675476.1:c.4046del ENSP00000502161.1:p.Leu1349ArgfsTer3
ENST00000675628.1:n.3412del
ENST00000675794.1:c.*1356del ENSP00000502841.1:n.*1356del
ENST00000675833.1:c.3953del ENSP00000502559.1:p.Leu1318ArgfsTer3
ENST00000676074.1:c.3185del ENSP00000502079.1:p.Leu1062ArgfsTer3
ENST00000676181.1:n.873del
ENST00000676363.1:n.8911del
ENST00000676448.1:c.*1098del ENSP00000501987.1:n.*1098del
ENST00000309041.11:c.3191del ENSP00000308021.7:p.Leu1064ArgfsTer3
ENST00000547691.6:c.365del ENSP00000446905.1:p.Leu122ArgfsTer3
ENST00000552810.5:c.3185del ENSP00000448012.1:p.Leu1062ArgfsTer3
ENST00000604024.5:c.2444del ENSP00000473863.1:p.Leu815ArgfsTer3
NM_025114.3:c.3185del NP_079390.3:p.Leu1062ArgfsTer3
XM_011538756.1:c.4046del XP_011537058.1:p.Leu1349ArgfsTer3
XM_011538757.1:c.4046del XP_011537059.1:p.Leu1349ArgfsTer3
XM_011538758.1:c.4046del XP_011537060.1:p.Leu1349ArgfsTer3
XM_011538759.1:c.4046del XP_011537061.1:p.Leu1349ArgfsTer3
XM_011538760.1:c.4046del XP_011537062.1:p.Leu1349ArgfsTer3
XM_011538761.1:c.4046del XP_011537063.1:p.Leu1349ArgfsTer3
XM_011538762.1:c.3278del XP_011537064.1:p.Leu1093ArgfsTer3
XM_011538763.1:c.3185del XP_011537065.1:p.Leu1062ArgfsTer3
XM_011538764.1:c.4046del XP_011537066.1:p.Leu1349ArgfsTer3
XM_011538765.1:c.4046del XP_011537067.1:p.Leu1349ArgfsTer3
XM_011538766.1:c.2507del XP_011537068.1:p.Leu836ArgfsTer3
XM_011538756.3:c.4046del XP_011537058.1:p.Leu1349ArgfsTer3
XM_011538757.3:c.4046del XP_011537059.1:p.Leu1349ArgfsTer3
XM_011538758.3:c.4046del XP_011537060.1:p.Leu1349ArgfsTer3
XM_011538759.2:c.4046del XP_011537061.1:p.Leu1349ArgfsTer3
XM_011538760.2:c.4046del XP_011537062.1:p.Leu1349ArgfsTer3
XM_011538761.2:c.4046del XP_011537063.1:p.Leu1349ArgfsTer3
XM_011538762.3:c.3278del XP_011537064.1:p.Leu1093ArgfsTer3
XM_011538763.3:c.3185del XP_011537065.1:p.Leu1062ArgfsTer3
XM_011538764.3:c.4046del XP_011537066.1:p.Leu1349ArgfsTer3
XM_011538765.3:c.4046del XP_011537067.1:p.Leu1349ArgfsTer3
XM_011538766.3:c.2507del XP_011537068.1:p.Leu836ArgfsTer3
XM_017019980.2:c.4046del XP_016875469.1:p.Leu1349ArgfsTer3
XM_017019981.2:c.4046del XP_016875470.1:p.Leu1349ArgfsTer3
XM_017019982.1:c.4046del XP_016875471.1:p.Leu1349ArgfsTer3
XM_017019983.2:c.3164del XP_016875472.1:p.Leu1055ArgfsTer3
XR_001748869.1:n.4390del
XR_001748870.2:n.4390del
NM_025114.4:c.3185del MANE Select NP_079390.3:p.Leu1062ArgfsTer3
Search 100 bp 5'
Search 100 bp 3'