Canonical Allele Identifier: CA2796874822

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88077345_88077346insAGTA , CM000674.2:g.88077345_88077346insAGTA	GRCh38
NC_000012.11:g.88471122_88471123insAGTA , CM000674.1:g.88471122_88471123insAGTA	GRCh37
NC_000012.10:g.86995253_86995254insAGTA	NCBI36
NG_008417.1:g.69871_69872insTACT
NG_008417.2:g.69871_69872insTACT

Transcript Alleles

HGVS	Amino-acid change
ENST00000309041.12:c.5587-2_5587-1insTACT	ENSP00000308021.8:n.5587-2_5587-1insTACT
ENST00000547691.8:c.2871-2_2871-1insTACT
ENST00000552810.6:c.5587-2_5587-1insTACT MANE Select	ENSP00000448012.1:n.5587-2_5587-1insTACT
ENST00000672414.2:c.*3758-2_*3758-1insTACT	ENSP00000500729.1:n.*3758-2_*3758-1insTACT
ENST00000672647.1:n.3947-2_3947-1insTACT
ENST00000673058.2:c.5587-2_5587-1insTACT	ENSP00000500665.2:n.5587-2_5587-1insTACT
ENST00000674971.1:c.5587-2_5587-1insTACT	ENSP00000502194.1:n.5587-2_5587-1insTACT
ENST00000675230.1:c.5566-2_5566-1insTACT	ENSP00000502503.1:n.5566-2_5566-1insTACT
ENST00000675408.1:c.5587-2_5587-1insTACT	ENSP00000502298.1:n.5587-2_5587-1insTACT
ENST00000675476.1:c.6448-2_6448-1insTACT	ENSP00000502161.1:n.6448-2_6448-1insTACT
ENST00000675628.1:n.5814-2_5814-1insTACT
ENST00000675794.1:c.*3758-2_*3758-1insTACT	ENSP00000502841.1:n.*3758-2_*3758-1insTACT
ENST00000675833.1:c.6355-2_6355-1insTACT	ENSP00000502559.1:n.6355-2_6355-1insTACT
ENST00000675894.1:n.1892-2_1892-1insTACT
ENST00000676074.1:c.5587-2_5587-1insTACT	ENSP00000502079.1:n.5587-2_5587-1insTACT
ENST00000676181.1:n.4515-2_4515-1insTACT
ENST00000676363.1:n.11313-2_11313-1insTACT
ENST00000676448.1:c.*3500-2_*3500-1insTACT	ENSP00000501987.1:n.*3500-2_*3500-1insTACT
ENST00000309041.11:c.5593-2_5593-1insTACT	ENSP00000308021.7:n.5593-2_5593-1insTACT
ENST00000547691.6:c.2767-2_2767-1insTACT	ENSP00000446905.1:n.2767-2_2767-1insTACT
ENST00000552810.5:c.5587-2_5587-1insTACT	ENSP00000448012.1:n.5587-2_5587-1insTACT
NM_025114.3:c.5587-2_5587-1insTACT	NP_079390.3:n.5587-2_5587-1insTACT
XM_011538756.1:c.6448-2_6448-1insTACT	XP_011537058.1:n.6448-2_6448-1insTACT
XM_011538757.1:c.6448-2_6448-1insTACT	XP_011537059.1:n.6448-2_6448-1insTACT
XM_011538758.1:c.6448-2_6448-1insTACT	XP_011537060.1:n.6448-2_6448-1insTACT
XM_011538759.1:c.6448-2_6448-1insTACT	XP_011537061.1:n.6448-2_6448-1insTACT
XM_011538760.1:c.6448-2_6448-1insTACT	XP_011537062.1:n.6448-2_6448-1insTACT
XM_011538761.1:c.6448-2_6448-1insTACT	XP_011537063.1:n.6448-2_6448-1insTACT
XM_011538762.1:c.5680-2_5680-1insTACT	XP_011537064.1:n.5680-2_5680-1insTACT
XM_011538763.1:c.5587-2_5587-1insTACT	XP_011537065.1:n.5587-2_5587-1insTACT
XM_011538764.1:c.6448-2_6448-1insTACT	XP_011537066.1:n.6448-2_6448-1insTACT
XM_011538765.1:c.6448-2_6448-1insTACT	XP_011537067.1:n.6448-2_6448-1insTACT
XM_011538766.1:c.4909-2_4909-1insTACT	XP_011537068.1:n.4909-2_4909-1insTACT
XR_945163.1:n.968-4968_968-4967insAGTA
XM_011538756.3:c.6448-2_6448-1insTACT	XP_011537058.1:n.6448-2_6448-1insTACT
XM_011538757.3:c.6448-2_6448-1insTACT	XP_011537059.1:n.6448-2_6448-1insTACT
XM_011538758.3:c.6448-2_6448-1insTACT	XP_011537060.1:n.6448-2_6448-1insTACT
XM_011538759.2:c.6448-2_6448-1insTACT	XP_011537061.1:n.6448-2_6448-1insTACT
XM_011538760.2:c.6448-2_6448-1insTACT	XP_011537062.1:n.6448-2_6448-1insTACT
XM_011538761.2:c.6448-2_6448-1insTACT	XP_011537063.1:n.6448-2_6448-1insTACT
XM_011538762.3:c.5680-2_5680-1insTACT	XP_011537064.1:n.5680-2_5680-1insTACT
XM_011538763.3:c.5587-2_5587-1insTACT	XP_011537065.1:n.5587-2_5587-1insTACT
XM_011538764.3:c.6448-2_6448-1insTACT	XP_011537066.1:n.6448-2_6448-1insTACT
XM_011538765.3:c.6448-2_6448-1insTACT	XP_011537067.1:n.6448-2_6448-1insTACT
XM_011538766.3:c.4909-2_4909-1insTACT	XP_011537068.1:n.4909-2_4909-1insTACT
XM_017019980.2:c.6448-2_6448-1insTACT	XP_016875469.1:n.6448-2_6448-1insTACT
XM_017019981.2:c.6448-2_6448-1insTACT	XP_016875470.1:n.6448-2_6448-1insTACT
XM_017019982.1:c.6448-2_6448-1insTACT	XP_016875471.1:n.6448-2_6448-1insTACT
XM_017019983.2:c.5566-2_5566-1insTACT	XP_016875472.1:n.5566-2_5566-1insTACT
XR_001748869.1:n.6792-2_6792-1insTACT
XR_001748870.2:n.6792-2_6792-1insTACT
NM_025114.4:c.5587-2_5587-1insTACT MANE Select	NP_079390.3:n.5587-2_5587-1insTACT