Canonical Allele Identifier: CA2052918059

Gene: CEP290

Linked Data

• dbSNP Id: rs2036789170

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88088850dup , CM000674.2:g.88088850dup	GRCh38
NC_000012.11:g.88482627dup , CM000674.1:g.88482627dup	GRCh37
NC_000012.10:g.87006758dup	NCBI36
NG_008417.1:g.58370dup
NG_008417.2:g.58370dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.4029+185dup	ENSP00000308021.8:n.4029+185dup
ENST00000547691.8:c.1313+185dup
ENST00000552810.6:c.4029+185dup MANE Select	ENSP00000448012.1:n.4029+185dup
ENST00000672414.2:c.*2200+185dup	ENSP00000500729.1:n.*2200+185dup
ENST00000672647.1:n.2389+185dup
ENST00000673058.2:c.4029+185dup	ENSP00000500665.2:n.4029+185dup
ENST00000674971.1:c.4029+185dup	ENSP00000502194.1:n.4029+185dup
ENST00000675230.1:c.4008+185dup	ENSP00000502503.1:n.4008+185dup
ENST00000675408.1:c.4029+185dup	ENSP00000502298.1:n.4029+185dup
ENST00000675476.1:c.4890+185dup	ENSP00000502161.1:n.4890+185dup
ENST00000675628.1:n.4256+185dup
ENST00000675794.1:c.*2200+185dup	ENSP00000502841.1:n.*2200+185dup
ENST00000675833.1:c.4797+185dup	ENSP00000502559.1:n.4797+185dup
ENST00000676074.1:c.4029+185dup	ENSP00000502079.1:n.4029+185dup
ENST00000676181.1:n.2957+185dup
ENST00000676363.1:n.9755+185dup
ENST00000676448.1:c.*1942+185dup	ENSP00000501987.1:n.*1942+185dup
ENST00000309041.11:c.4035+185dup	ENSP00000308021.7:n.4035+185dup
ENST00000547691.6:c.1209+185dup	ENSP00000446905.1:n.1209+185dup
ENST00000552810.5:c.4029+185dup	ENSP00000448012.1:n.4029+185dup
NM_025114.3:c.4029+185dup	NP_079390.3:n.4029+185dup
XM_011538756.1:c.4890+185dup	XP_011537058.1:n.4890+185dup
XM_011538757.1:c.4890+185dup	XP_011537059.1:n.4890+185dup
XM_011538758.1:c.4890+185dup	XP_011537060.1:n.4890+185dup
XM_011538759.1:c.4890+185dup	XP_011537061.1:n.4890+185dup
XM_011538760.1:c.4890+185dup	XP_011537062.1:n.4890+185dup
XM_011538761.1:c.4890+185dup	XP_011537063.1:n.4890+185dup
XM_011538762.1:c.4122+185dup	XP_011537064.1:n.4122+185dup
XM_011538763.1:c.4029+185dup	XP_011537065.1:n.4029+185dup
XM_011538764.1:c.4890+185dup	XP_011537066.1:n.4890+185dup
XM_011538765.1:c.4890+185dup	XP_011537067.1:n.4890+185dup
XM_011538766.1:c.3351+185dup	XP_011537068.1:n.3351+185dup
XM_011538756.3:c.4890+185dup	XP_011537058.1:n.4890+185dup
XM_011538757.3:c.4890+185dup	XP_011537059.1:n.4890+185dup
XM_011538758.3:c.4890+185dup	XP_011537060.1:n.4890+185dup
XM_011538759.2:c.4890+185dup	XP_011537061.1:n.4890+185dup
XM_011538760.2:c.4890+185dup	XP_011537062.1:n.4890+185dup
XM_011538761.2:c.4890+185dup	XP_011537063.1:n.4890+185dup
XM_011538762.3:c.4122+185dup	XP_011537064.1:n.4122+185dup
XM_011538763.3:c.4029+185dup	XP_011537065.1:n.4029+185dup
XM_011538764.3:c.4890+185dup	XP_011537066.1:n.4890+185dup
XM_011538765.3:c.4890+185dup	XP_011537067.1:n.4890+185dup
XM_011538766.3:c.3351+185dup	XP_011537068.1:n.3351+185dup
XM_017019980.2:c.4890+185dup	XP_016875469.1:n.4890+185dup
XM_017019981.2:c.4890+185dup	XP_016875470.1:n.4890+185dup
XM_017019982.1:c.4890+185dup	XP_016875471.1:n.4890+185dup
XM_017019983.2:c.4008+185dup	XP_016875472.1:n.4008+185dup
XR_001748869.1:n.5234+185dup
XR_001748870.2:n.5234+185dup
NM_025114.4:c.4029+185dup MANE Select	NP_079390.3:n.4029+185dup