Canonical Allele Identifier: CA2052906746
Gene: CEP290 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88060840dup , CM000674.2:g.88060840dup GRCh38
NC_000012.11:g.88454617dup , CM000674.1:g.88454617dup GRCh37
NC_000012.10:g.86978748dup NCBI36
NG_008417.1:g.86381dup
NG_008417.2:g.86381dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000309041.12:c.6525dup ENSP00000308021.8:p.Leu2176IlefsTer4
ENST00000547691.8:c.3800dup
ENST00000552810.6:c.6516dup MANE Select ENSP00000448012.1:p.Leu2173IlefsTer4
ENST00000671777.2:n.295dup
ENST00000672414.2:c.*4529-816dup ENSP00000500729.1:n.*4529-816dup
ENST00000672647.1:n.4876dup
ENST00000673058.2:c.6516dup ENSP00000500665.2:p.Leu2173IlefsTer5
ENST00000674889.1:n.3469dup
ENST00000674971.1:c.6516dup ENSP00000502194.1:p.Leu2173IlefsTer4
ENST00000675230.1:c.6495dup ENSP00000502503.1:p.Leu2166IlefsTer4
ENST00000675408.1:c.6358-816dup ENSP00000502298.1:n.6358-816dup
ENST00000675476.1:c.7377dup ENSP00000502161.1:p.Leu2460IlefsTer4
ENST00000675628.1:n.6743dup
ENST00000675794.1:c.*4687dup ENSP00000502841.1:n.*4687dup
ENST00000675833.1:c.7284dup ENSP00000502559.1:p.Leu2429IlefsTer4
ENST00000675894.1:n.2821dup
ENST00000676074.1:c.6358-816dup ENSP00000502079.1:n.6358-816dup
ENST00000676181.1:n.5444dup
ENST00000676190.1:n.955dup
ENST00000676363.1:n.12242dup
ENST00000309041.11:c.6522dup ENSP00000308021.7:p.Leu2175IlefsTer4
ENST00000547691.6:c.3696dup ENSP00000446905.1:p.Leu1233IlefsTer4
ENST00000552810.5:c.6516dup ENSP00000448012.1:p.Leu2173IlefsTer4
NM_025114.3:c.6516dup NP_079390.3:p.Leu2173IlefsTer4
XM_011538756.1:c.7386dup XP_011537058.1:p.Leu2463IlefsTer4
XM_011538757.1:c.7386dup XP_011537059.1:p.Leu2463IlefsTer4
XM_011538758.1:c.7383dup XP_011537060.1:p.Leu2462IlefsTer4
XM_011538759.1:c.7377dup XP_011537061.1:p.Leu2460IlefsTer4
XM_011538760.1:c.7386dup XP_011537062.1:p.Leu2463IlefsTer5
XM_011538761.1:c.7228-816dup XP_011537063.1:n.7228-816dup
XM_011538762.1:c.6618dup XP_011537064.1:p.Leu2207IlefsTer4
XM_011538763.1:c.6525dup XP_011537065.1:p.Leu2176IlefsTer4
XM_011538766.1:c.5847dup XP_011537068.1:p.Leu1950IlefsTer4
XR_945163.1:n.967+3820dup
XM_011538756.3:c.7386dup XP_011537058.1:p.Leu2463IlefsTer4
XM_011538757.3:c.7386dup XP_011537059.1:p.Leu2463IlefsTer4
XM_011538758.3:c.7383dup XP_011537060.1:p.Leu2462IlefsTer4
XM_011538759.2:c.7377dup XP_011537061.1:p.Leu2460IlefsTer4
XM_011538760.2:c.7386dup XP_011537062.1:p.Leu2463IlefsTer5
XM_011538761.2:c.7228-816dup XP_011537063.1:n.7228-816dup
XM_011538762.3:c.6618dup XP_011537064.1:p.Leu2207IlefsTer4
XM_011538763.3:c.6525dup XP_011537065.1:p.Leu2176IlefsTer4
XM_011538766.3:c.5847dup XP_011537068.1:p.Leu1950IlefsTer4
XM_017019980.2:c.7377dup XP_016875469.1:p.Leu2460IlefsTer5
XM_017019981.2:c.7219-816dup XP_016875470.1:n.7219-816dup
XM_017019982.1:c.7386dup XP_016875471.1:p.Leu2463IlefsTer4
XM_017019983.2:c.6504dup XP_016875472.1:p.Leu2169IlefsTer4
XR_001748869.1:n.7721dup
XR_001748870.2:n.7563-816dup
NM_025114.4:c.6516dup MANE Select NP_079390.3:p.Leu2173IlefsTer4