Canonical Allele Identifier: CA16619602
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 419224
ClinVar RCV Id: RCV000481864
dbSNP Id: rs1064793733

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88102860del , CM000674.2:g.88102860del GRCh38
NC_000012.11:g.88496637del , CM000674.1:g.88496637del GRCh37
NC_000012.10:g.87020768del NCBI36
NG_008417.1:g.44357del
NG_008417.2:g.44357del

Transcript Alleles

HGVS Amino-acid change
ENST00000309041.12:c.2969del ENSP00000308021.8:p.Thr990LysfsTer14
ENST00000547691.8:c.253del
ENST00000552810.6:c.2969del MANE Select ENSP00000448012.1:p.Thr990LysfsTer14
ENST00000672414.2:c.*1140del ENSP00000500729.1:n.*1140del
ENST00000672647.1:n.1329del
ENST00000673058.2:c.2969del ENSP00000500665.2:p.Thr990LysfsTer14
ENST00000674971.1:c.2969del ENSP00000502194.1:p.Thr990LysfsTer14
ENST00000675089.1:c.152del ENSP00000501582.1:p.Thr51LysfsTer14
ENST00000675230.1:c.2948del ENSP00000502503.1:p.Thr983LysfsTer14
ENST00000675408.1:c.2969del ENSP00000502298.1:p.Thr990LysfsTer14
ENST00000675476.1:c.3830del ENSP00000502161.1:p.Thr1277LysfsTer14
ENST00000675628.1:n.3196del
ENST00000675794.1:c.*1140del ENSP00000502841.1:n.*1140del
ENST00000675833.1:c.3737del ENSP00000502559.1:p.Thr1246LysfsTer14
ENST00000676074.1:c.2969del ENSP00000502079.1:p.Thr990LysfsTer14
ENST00000676181.1:n.657del
ENST00000676363.1:n.8695del
ENST00000676448.1:c.*882del ENSP00000501987.1:n.*882del
ENST00000309041.11:c.2975del ENSP00000308021.7:p.Thr992LysfsTer14
ENST00000547691.6:c.149del ENSP00000446905.1:p.Thr50LysfsTer14
ENST00000552810.5:c.2969del ENSP00000448012.1:p.Thr990LysfsTer14
ENST00000604024.5:c.2228del ENSP00000473863.1:p.Thr743LysfsTer14
NM_025114.3:c.2969del NP_079390.3:p.Thr990LysfsTer14
XM_011538756.1:c.3830del XP_011537058.1:p.Thr1277LysfsTer14
XM_011538757.1:c.3830del XP_011537059.1:p.Thr1277LysfsTer14
XM_011538758.1:c.3830del XP_011537060.1:p.Thr1277LysfsTer14
XM_011538759.1:c.3830del XP_011537061.1:p.Thr1277LysfsTer14
XM_011538760.1:c.3830del XP_011537062.1:p.Thr1277LysfsTer14
XM_011538761.1:c.3830del XP_011537063.1:p.Thr1277LysfsTer14
XM_011538762.1:c.3062del XP_011537064.1:p.Thr1021LysfsTer14
XM_011538763.1:c.2969del XP_011537065.1:p.Thr990LysfsTer14
XM_011538764.1:c.3830del XP_011537066.1:p.Thr1277LysfsTer14
XM_011538765.1:c.3830del XP_011537067.1:p.Thr1277LysfsTer14
XM_011538766.1:c.2291del XP_011537068.1:p.Thr764LysfsTer14
XM_011538756.3:c.3830del XP_011537058.1:p.Thr1277LysfsTer14
XM_011538757.3:c.3830del XP_011537059.1:p.Thr1277LysfsTer14
XM_011538758.3:c.3830del XP_011537060.1:p.Thr1277LysfsTer14
XM_011538759.2:c.3830del XP_011537061.1:p.Thr1277LysfsTer14
XM_011538760.2:c.3830del XP_011537062.1:p.Thr1277LysfsTer14
XM_011538761.2:c.3830del XP_011537063.1:p.Thr1277LysfsTer14
XM_011538762.3:c.3062del XP_011537064.1:p.Thr1021LysfsTer14
XM_011538763.3:c.2969del XP_011537065.1:p.Thr990LysfsTer14
XM_011538764.3:c.3830del XP_011537066.1:p.Thr1277LysfsTer14
XM_011538765.3:c.3830del XP_011537067.1:p.Thr1277LysfsTer14
XM_011538766.3:c.2291del XP_011537068.1:p.Thr764LysfsTer14
XM_017019980.2:c.3830del XP_016875469.1:p.Thr1277LysfsTer14
XM_017019981.2:c.3830del XP_016875470.1:p.Thr1277LysfsTer14
XM_017019982.1:c.3830del XP_016875471.1:p.Thr1277LysfsTer14
XM_017019983.2:c.2948del XP_016875472.1:p.Thr983LysfsTer14
XR_001748869.1:n.4174del
XR_001748870.2:n.4174del
NM_025114.4:c.2969del MANE Select NP_079390.3:p.Thr990LysfsTer14