Canonical Allele Identifier: CA2580616850

Gene: CEP290

Linked Data

• ClinVar Variation Id: 2502208
• ClinVar RCV Id: RCV003228626

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88083177_88083183delinsT , CM000674.2:g.88083177_88083183delinsT	GRCh38
NC_000012.11:g.88476954_88476960delinsT , CM000674.1:g.88476954_88476960delinsT	GRCh37
NC_000012.10:g.87001085_87001091delinsT	NCBI36
NG_008417.1:g.64034_64040delinsA
NG_008417.2:g.64034_64040delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.4860_4866delinsA	ENSP00000308021.8:p.Phe1620_Arg1622delinsLeu
ENST00000547691.8:c.2144_2150delinsA
ENST00000552810.6:c.4860_4866delinsA MANE Select	ENSP00000448012.1:p.Phe1620_Arg1622delinsLeu
ENST00000672414.2:c.*3031_*3037delinsA	ENSP00000500729.1:n.*3031_*3037delinsA
ENST00000672647.1:n.3220_3226delinsA
ENST00000673058.2:c.4860_4866delinsA	ENSP00000500665.2:p.Phe1620_Arg1622delinsLeu
ENST00000674971.1:c.4860_4866delinsA	ENSP00000502194.1:p.Phe1620_Arg1622delinsLeu
ENST00000675230.1:c.4839_4845delinsA	ENSP00000502503.1:p.Phe1613_Arg1615delinsLeu
ENST00000675408.1:c.4860_4866delinsA	ENSP00000502298.1:p.Phe1620_Arg1622delinsLeu
ENST00000675476.1:c.5721_5727delinsA	ENSP00000502161.1:p.Phe1907_Arg1909delinsLeu
ENST00000675628.1:n.5087_5093delinsA
ENST00000675794.1:c.*3031_*3037delinsA	ENSP00000502841.1:n.*3031_*3037delinsA
ENST00000675833.1:c.5628_5634delinsA	ENSP00000502559.1:p.Phe1876_Arg1878delinsLeu
ENST00000675894.1:n.1165_1171delinsA
ENST00000676074.1:c.4860_4866delinsA	ENSP00000502079.1:p.Phe1620_Arg1622delinsLeu
ENST00000676181.1:n.3788_3794delinsA
ENST00000676363.1:n.10586_10592delinsA
ENST00000676448.1:c.*2773_*2779delinsA	ENSP00000501987.1:n.*2773_*2779delinsA
ENST00000309041.11:c.4866_4872delinsA	ENSP00000308021.7:p.Phe1622_Arg1624delinsLeu
ENST00000547691.6:c.2040_2046delinsA	ENSP00000446905.1:p.Phe680_Arg682delinsLeu
ENST00000552810.5:c.4860_4866delinsA	ENSP00000448012.1:p.Phe1620_Arg1622delinsLeu
NM_025114.3:c.4860_4866delinsA	NP_079390.3:p.Phe1620_Arg1622delinsLeu
XM_011538756.1:c.5721_5727delinsA	XP_011537058.1:p.Phe1907_Arg1909delinsLeu
XM_011538757.1:c.5721_5727delinsA	XP_011537059.1:p.Phe1907_Arg1909delinsLeu
XM_011538758.1:c.5721_5727delinsA	XP_011537060.1:p.Phe1907_Arg1909delinsLeu
XM_011538759.1:c.5721_5727delinsA	XP_011537061.1:p.Phe1907_Arg1909delinsLeu
XM_011538760.1:c.5721_5727delinsA	XP_011537062.1:p.Phe1907_Arg1909delinsLeu
XM_011538761.1:c.5721_5727delinsA	XP_011537063.1:p.Phe1907_Arg1909delinsLeu
XM_011538762.1:c.4953_4959delinsA	XP_011537064.1:p.Phe1651_Arg1653delinsLeu
XM_011538763.1:c.4860_4866delinsA	XP_011537065.1:p.Phe1620_Arg1622delinsLeu
XM_011538764.1:c.5721_5727delinsA	XP_011537066.1:p.Phe1907_Arg1909delinsLeu
XM_011538765.1:c.5721_5727delinsA	XP_011537067.1:p.Phe1907_Arg1909delinsLeu
XM_011538766.1:c.4182_4188delinsA	XP_011537068.1:p.Phe1394_Arg1396delinsLeu
XM_011538756.3:c.5721_5727delinsA	XP_011537058.1:p.Phe1907_Arg1909delinsLeu
XM_011538757.3:c.5721_5727delinsA	XP_011537059.1:p.Phe1907_Arg1909delinsLeu
XM_011538758.3:c.5721_5727delinsA	XP_011537060.1:p.Phe1907_Arg1909delinsLeu
XM_011538759.2:c.5721_5727delinsA	XP_011537061.1:p.Phe1907_Arg1909delinsLeu
XM_011538760.2:c.5721_5727delinsA	XP_011537062.1:p.Phe1907_Arg1909delinsLeu
XM_011538761.2:c.5721_5727delinsA	XP_011537063.1:p.Phe1907_Arg1909delinsLeu
XM_011538762.3:c.4953_4959delinsA	XP_011537064.1:p.Phe1651_Arg1653delinsLeu
XM_011538763.3:c.4860_4866delinsA	XP_011537065.1:p.Phe1620_Arg1622delinsLeu
XM_011538764.3:c.5721_5727delinsA	XP_011537066.1:p.Phe1907_Arg1909delinsLeu
XM_011538765.3:c.5721_5727delinsA	XP_011537067.1:p.Phe1907_Arg1909delinsLeu
XM_011538766.3:c.4182_4188delinsA	XP_011537068.1:p.Phe1394_Arg1396delinsLeu
XM_017019980.2:c.5721_5727delinsA	XP_016875469.1:p.Phe1907_Arg1909delinsLeu
XM_017019981.2:c.5721_5727delinsA	XP_016875470.1:p.Phe1907_Arg1909delinsLeu
XM_017019982.1:c.5721_5727delinsA	XP_016875471.1:p.Phe1907_Arg1909delinsLeu
XM_017019983.2:c.4839_4845delinsA	XP_016875472.1:p.Phe1613_Arg1615delinsLeu
XR_001748869.1:n.6065_6071delinsA
XR_001748870.2:n.6065_6071delinsA
NM_025114.4:c.4860_4866delinsA MANE Select	NP_079390.3:p.Phe1620_Arg1622delinsLeu