Canonical Allele Identifier: CA2840943552

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88083923_88083924del , CM000674.2:g.88083923_88083924del	GRCh38
NC_000012.11:g.88477700_88477701del , CM000674.1:g.88477700_88477701del	GRCh37
NC_000012.10:g.87001831_87001832del	NCBI36
NG_008417.1:g.63293_63294del
NG_008417.2:g.63293_63294del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.4735_4736del	ENSP00000308021.8:p.Glu1579ArgfsTer14
ENST00000547691.8:c.2019_2020del
ENST00000552810.6:c.4735_4736del MANE Select	ENSP00000448012.1:p.Glu1579ArgfsTer14
ENST00000672414.2:c.*2906_*2907del	ENSP00000500729.1:n.*2906_*2907del
ENST00000672647.1:n.3095_3096del
ENST00000673058.2:c.4735_4736del	ENSP00000500665.2:p.Glu1579ArgfsTer14
ENST00000674971.1:c.4735_4736del	ENSP00000502194.1:p.Glu1579ArgfsTer14
ENST00000675230.1:c.4714_4715del	ENSP00000502503.1:p.Glu1572ArgfsTer14
ENST00000675408.1:c.4735_4736del	ENSP00000502298.1:p.Glu1579ArgfsTer14
ENST00000675476.1:c.5596_5597del	ENSP00000502161.1:p.Glu1866ArgfsTer14
ENST00000675628.1:n.4962_4963del
ENST00000675794.1:c.*2906_*2907del	ENSP00000502841.1:n.*2906_*2907del
ENST00000675833.1:c.5503_5504del	ENSP00000502559.1:p.Glu1835ArgfsTer14
ENST00000675894.1:n.1040_1041del
ENST00000676074.1:c.4735_4736del	ENSP00000502079.1:p.Glu1579ArgfsTer14
ENST00000676181.1:n.3663_3664del
ENST00000676363.1:n.10461_10462del
ENST00000676448.1:c.*2648_*2649del	ENSP00000501987.1:n.*2648_*2649del
ENST00000309041.11:c.4741_4742del	ENSP00000308021.7:p.Glu1581ArgfsTer14
ENST00000547691.6:c.1915_1916del	ENSP00000446905.1:p.Glu639ArgfsTer14
ENST00000552810.5:c.4735_4736del	ENSP00000448012.1:p.Glu1579ArgfsTer14
NM_025114.3:c.4735_4736del	NP_079390.3:p.Glu1579ArgfsTer14
XM_011538756.1:c.5596_5597del	XP_011537058.1:p.Glu1866ArgfsTer14
XM_011538757.1:c.5596_5597del	XP_011537059.1:p.Glu1866ArgfsTer14
XM_011538758.1:c.5596_5597del	XP_011537060.1:p.Glu1866ArgfsTer14
XM_011538759.1:c.5596_5597del	XP_011537061.1:p.Glu1866ArgfsTer14
XM_011538760.1:c.5596_5597del	XP_011537062.1:p.Glu1866ArgfsTer14
XM_011538761.1:c.5596_5597del	XP_011537063.1:p.Glu1866ArgfsTer14
XM_011538762.1:c.4828_4829del	XP_011537064.1:p.Glu1610ArgfsTer14
XM_011538763.1:c.4735_4736del	XP_011537065.1:p.Glu1579ArgfsTer14
XM_011538764.1:c.5596_5597del	XP_011537066.1:p.Glu1866ArgfsTer14
XM_011538765.1:c.5596_5597del	XP_011537067.1:p.Glu1866ArgfsTer14
XM_011538766.1:c.4057_4058del	XP_011537068.1:p.Glu1353ArgfsTer14
XM_011538756.3:c.5596_5597del	XP_011537058.1:p.Glu1866ArgfsTer14
XM_011538757.3:c.5596_5597del	XP_011537059.1:p.Glu1866ArgfsTer14
XM_011538758.3:c.5596_5597del	XP_011537060.1:p.Glu1866ArgfsTer14
XM_011538759.2:c.5596_5597del	XP_011537061.1:p.Glu1866ArgfsTer14
XM_011538760.2:c.5596_5597del	XP_011537062.1:p.Glu1866ArgfsTer14
XM_011538761.2:c.5596_5597del	XP_011537063.1:p.Glu1866ArgfsTer14
XM_011538762.3:c.4828_4829del	XP_011537064.1:p.Glu1610ArgfsTer14
XM_011538763.3:c.4735_4736del	XP_011537065.1:p.Glu1579ArgfsTer14
XM_011538764.3:c.5596_5597del	XP_011537066.1:p.Glu1866ArgfsTer14
XM_011538765.3:c.5596_5597del	XP_011537067.1:p.Glu1866ArgfsTer14
XM_011538766.3:c.4057_4058del	XP_011537068.1:p.Glu1353ArgfsTer14
XM_017019980.2:c.5596_5597del	XP_016875469.1:p.Glu1866ArgfsTer14
XM_017019981.2:c.5596_5597del	XP_016875470.1:p.Glu1866ArgfsTer14
XM_017019982.1:c.5596_5597del	XP_016875471.1:p.Glu1866ArgfsTer14
XM_017019983.2:c.4714_4715del	XP_016875472.1:p.Glu1572ArgfsTer14
XR_001748869.1:n.5940_5941del
XR_001748870.2:n.5940_5941del
NM_025114.4:c.4735_4736del MANE Select	NP_079390.3:p.Glu1579ArgfsTer14