Canonical Allele Identifier: CA2620104298

Gene: CEP290

Linked Data

• gnomAD v4: 12-88077365-T-TACACCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88077365_88077366insACACCTC , CM000674.2:g.88077365_88077366insACACCTC	GRCh38
NC_000012.11:g.88471142_88471143insACACCTC , CM000674.1:g.88471142_88471143insACACCTC	GRCh37
NC_000012.10:g.86995273_86995274insACACCTC	NCBI36
NG_008417.1:g.69851_69852insGAGGTGT
NG_008417.2:g.69851_69852insGAGGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.5587-22_5587-21insGAGGTGT	ENSP00000308021.8:n.5587-22_5587-21insGAGGTGT
ENST00000547691.8:c.2871-22_2871-21insGAGGTGT
ENST00000552810.6:c.5587-22_5587-21insGAGGTGT MANE Select	ENSP00000448012.1:n.5587-22_5587-21insGAGGTGT
ENST00000672414.2:c.*3758-22_*3758-21insGAGGTGT	ENSP00000500729.1:n.*3758-22_*3758-21insGAGGTGT
ENST00000672647.1:n.3947-22_3947-21insGAGGTGT
ENST00000673058.2:c.5587-22_5587-21insGAGGTGT	ENSP00000500665.2:n.5587-22_5587-21insGAGGTGT
ENST00000674971.1:c.5587-22_5587-21insGAGGTGT	ENSP00000502194.1:n.5587-22_5587-21insGAGGTGT
ENST00000675230.1:c.5566-22_5566-21insGAGGTGT	ENSP00000502503.1:n.5566-22_5566-21insGAGGTGT
ENST00000675408.1:c.5587-22_5587-21insGAGGTGT	ENSP00000502298.1:n.5587-22_5587-21insGAGGTGT
ENST00000675476.1:c.6448-22_6448-21insGAGGTGT	ENSP00000502161.1:n.6448-22_6448-21insGAGGTGT
ENST00000675628.1:n.5814-22_5814-21insGAGGTGT
ENST00000675794.1:c.*3758-22_*3758-21insGAGGTGT	ENSP00000502841.1:n.*3758-22_*3758-21insGAGGTGT
ENST00000675833.1:c.6355-22_6355-21insGAGGTGT	ENSP00000502559.1:n.6355-22_6355-21insGAGGTGT
ENST00000675894.1:n.1892-22_1892-21insGAGGTGT
ENST00000676074.1:c.5587-22_5587-21insGAGGTGT	ENSP00000502079.1:n.5587-22_5587-21insGAGGTGT
ENST00000676181.1:n.4515-22_4515-21insGAGGTGT
ENST00000676363.1:n.11313-22_11313-21insGAGGTGT
ENST00000676448.1:c.*3500-22_*3500-21insGAGGTGT	ENSP00000501987.1:n.*3500-22_*3500-21insGAGGTGT
ENST00000309041.11:c.5593-22_5593-21insGAGGTGT	ENSP00000308021.7:n.5593-22_5593-21insGAGGTGT
ENST00000547691.6:c.2767-22_2767-21insGAGGTGT	ENSP00000446905.1:n.2767-22_2767-21insGAGGTGT
ENST00000552810.5:c.5587-22_5587-21insGAGGTGT	ENSP00000448012.1:n.5587-22_5587-21insGAGGTGT
NM_025114.3:c.5587-22_5587-21insGAGGTGT	NP_079390.3:n.5587-22_5587-21insGAGGTGT
XM_011538756.1:c.6448-22_6448-21insGAGGTGT	XP_011537058.1:n.6448-22_6448-21insGAGGTGT
XM_011538757.1:c.6448-22_6448-21insGAGGTGT	XP_011537059.1:n.6448-22_6448-21insGAGGTGT
XM_011538758.1:c.6448-22_6448-21insGAGGTGT	XP_011537060.1:n.6448-22_6448-21insGAGGTGT
XM_011538759.1:c.6448-22_6448-21insGAGGTGT	XP_011537061.1:n.6448-22_6448-21insGAGGTGT
XM_011538760.1:c.6448-22_6448-21insGAGGTGT	XP_011537062.1:n.6448-22_6448-21insGAGGTGT
XM_011538761.1:c.6448-22_6448-21insGAGGTGT	XP_011537063.1:n.6448-22_6448-21insGAGGTGT
XM_011538762.1:c.5680-22_5680-21insGAGGTGT	XP_011537064.1:n.5680-22_5680-21insGAGGTGT
XM_011538763.1:c.5587-22_5587-21insGAGGTGT	XP_011537065.1:n.5587-22_5587-21insGAGGTGT
XM_011538764.1:c.6448-22_6448-21insGAGGTGT	XP_011537066.1:n.6448-22_6448-21insGAGGTGT
XM_011538765.1:c.6448-22_6448-21insGAGGTGT	XP_011537067.1:n.6448-22_6448-21insGAGGTGT
XM_011538766.1:c.4909-22_4909-21insGAGGTGT	XP_011537068.1:n.4909-22_4909-21insGAGGTGT
XR_945163.1:n.968-4948_968-4947insACACCTC
XM_011538756.3:c.6448-22_6448-21insGAGGTGT	XP_011537058.1:n.6448-22_6448-21insGAGGTGT
XM_011538757.3:c.6448-22_6448-21insGAGGTGT	XP_011537059.1:n.6448-22_6448-21insGAGGTGT
XM_011538758.3:c.6448-22_6448-21insGAGGTGT	XP_011537060.1:n.6448-22_6448-21insGAGGTGT
XM_011538759.2:c.6448-22_6448-21insGAGGTGT	XP_011537061.1:n.6448-22_6448-21insGAGGTGT
XM_011538760.2:c.6448-22_6448-21insGAGGTGT	XP_011537062.1:n.6448-22_6448-21insGAGGTGT
XM_011538761.2:c.6448-22_6448-21insGAGGTGT	XP_011537063.1:n.6448-22_6448-21insGAGGTGT
XM_011538762.3:c.5680-22_5680-21insGAGGTGT	XP_011537064.1:n.5680-22_5680-21insGAGGTGT
XM_011538763.3:c.5587-22_5587-21insGAGGTGT	XP_011537065.1:n.5587-22_5587-21insGAGGTGT
XM_011538764.3:c.6448-22_6448-21insGAGGTGT	XP_011537066.1:n.6448-22_6448-21insGAGGTGT
XM_011538765.3:c.6448-22_6448-21insGAGGTGT	XP_011537067.1:n.6448-22_6448-21insGAGGTGT
XM_011538766.3:c.4909-22_4909-21insGAGGTGT	XP_011537068.1:n.4909-22_4909-21insGAGGTGT
XM_017019980.2:c.6448-22_6448-21insGAGGTGT	XP_016875469.1:n.6448-22_6448-21insGAGGTGT
XM_017019981.2:c.6448-22_6448-21insGAGGTGT	XP_016875470.1:n.6448-22_6448-21insGAGGTGT
XM_017019982.1:c.6448-22_6448-21insGAGGTGT	XP_016875471.1:n.6448-22_6448-21insGAGGTGT
XM_017019983.2:c.5566-22_5566-21insGAGGTGT	XP_016875472.1:n.5566-22_5566-21insGAGGTGT
XR_001748869.1:n.6792-22_6792-21insGAGGTGT
XR_001748870.2:n.6792-22_6792-21insGAGGTGT
NM_025114.4:c.5587-22_5587-21insGAGGTGT MANE Select	NP_079390.3:n.5587-22_5587-21insGAGGTGT