Canonical Allele Identifier: CA2620107559

Gene: CEP290

Linked Data

• gnomAD v4: 12-88083084-T-TCTCTCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88083089_88083090insACCTCTC , CM000674.2:g.88083089_88083090insACCTCTC	GRCh38
NC_000012.11:g.88476866_88476867insACCTCTC , CM000674.1:g.88476866_88476867insACCTCTC	GRCh37
NC_000012.10:g.87000997_87000998insACCTCTC	NCBI36
NG_008417.1:g.64132_64133insGTGAGAG
NG_008417.2:g.64132_64133insGTGAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.4958_4959insGTGAGAG	ENSP00000308021.8:p.Gln1654Ter
ENST00000547691.8:c.2242_2243insGTGAGAG
ENST00000552810.6:c.4958_4959insGTGAGAG MANE Select	ENSP00000448012.1:p.Gln1654Ter
ENST00000672414.2:c.*3129_*3130insGTGAGAG	ENSP00000500729.1:n.*3129_*3130insGTGAGAG
ENST00000672647.1:n.3318_3319insGTGAGAG
ENST00000673058.2:c.4958_4959insGTGAGAG	ENSP00000500665.2:p.Gln1654Ter
ENST00000674971.1:c.4958_4959insGTGAGAG	ENSP00000502194.1:p.Gln1654Ter
ENST00000675230.1:c.4937_4938insGTGAGAG	ENSP00000502503.1:p.Gln1647Ter
ENST00000675408.1:c.4958_4959insGTGAGAG	ENSP00000502298.1:p.Gln1654Ter
ENST00000675476.1:c.5819_5820insGTGAGAG	ENSP00000502161.1:p.Gln1941Ter
ENST00000675628.1:n.5185_5186insGTGAGAG
ENST00000675794.1:c.*3129_*3130insGTGAGAG	ENSP00000502841.1:n.*3129_*3130insGTGAGAG
ENST00000675833.1:c.5726_5727insGTGAGAG	ENSP00000502559.1:p.Gln1910Ter
ENST00000675894.1:n.1263_1264insGTGAGAG
ENST00000676074.1:c.4958_4959insGTGAGAG	ENSP00000502079.1:p.Gln1654Ter
ENST00000676181.1:n.3886_3887insGTGAGAG
ENST00000676363.1:n.10684_10685insGTGAGAG
ENST00000676448.1:c.*2871_*2872insGTGAGAG	ENSP00000501987.1:n.*2871_*2872insGTGAGAG
ENST00000309041.11:c.4964_4965insGTGAGAG	ENSP00000308021.7:p.Gln1656Ter
ENST00000547691.6:c.2138_2139insGTGAGAG	ENSP00000446905.1:p.Gln714Ter
ENST00000552810.5:c.4958_4959insGTGAGAG	ENSP00000448012.1:p.Gln1654Ter
NM_025114.3:c.4958_4959insGTGAGAG	NP_079390.3:p.Gln1654Ter
XM_011538756.1:c.5819_5820insGTGAGAG	XP_011537058.1:p.Gln1941Ter
XM_011538757.1:c.5819_5820insGTGAGAG	XP_011537059.1:p.Gln1941Ter
XM_011538758.1:c.5819_5820insGTGAGAG	XP_011537060.1:p.Gln1941Ter
XM_011538759.1:c.5819_5820insGTGAGAG	XP_011537061.1:p.Gln1941Ter
XM_011538760.1:c.5819_5820insGTGAGAG	XP_011537062.1:p.Gln1941Ter
XM_011538761.1:c.5819_5820insGTGAGAG	XP_011537063.1:p.Gln1941Ter
XM_011538762.1:c.5051_5052insGTGAGAG	XP_011537064.1:p.Gln1685Ter
XM_011538763.1:c.4958_4959insGTGAGAG	XP_011537065.1:p.Gln1654Ter
XM_011538764.1:c.5819_5820insGTGAGAG	XP_011537066.1:p.Gln1941Ter
XM_011538765.1:c.5819_5820insGTGAGAG	XP_011537067.1:p.Gln1941Ter
XM_011538766.1:c.4280_4281insGTGAGAG	XP_011537068.1:p.Gln1428Ter
XM_011538756.3:c.5819_5820insGTGAGAG	XP_011537058.1:p.Gln1941Ter
XM_011538757.3:c.5819_5820insGTGAGAG	XP_011537059.1:p.Gln1941Ter
XM_011538758.3:c.5819_5820insGTGAGAG	XP_011537060.1:p.Gln1941Ter
XM_011538759.2:c.5819_5820insGTGAGAG	XP_011537061.1:p.Gln1941Ter
XM_011538760.2:c.5819_5820insGTGAGAG	XP_011537062.1:p.Gln1941Ter
XM_011538761.2:c.5819_5820insGTGAGAG	XP_011537063.1:p.Gln1941Ter
XM_011538762.3:c.5051_5052insGTGAGAG	XP_011537064.1:p.Gln1685Ter
XM_011538763.3:c.4958_4959insGTGAGAG	XP_011537065.1:p.Gln1654Ter
XM_011538764.3:c.5819_5820insGTGAGAG	XP_011537066.1:p.Gln1941Ter
XM_011538765.3:c.5819_5820insGTGAGAG	XP_011537067.1:p.Gln1941Ter
XM_011538766.3:c.4280_4281insGTGAGAG	XP_011537068.1:p.Gln1428Ter
XM_017019980.2:c.5819_5820insGTGAGAG	XP_016875469.1:p.Gln1941Ter
XM_017019981.2:c.5819_5820insGTGAGAG	XP_016875470.1:p.Gln1941Ter
XM_017019982.1:c.5819_5820insGTGAGAG	XP_016875471.1:p.Gln1941Ter
XM_017019983.2:c.4937_4938insGTGAGAG	XP_016875472.1:p.Gln1647Ter
XR_001748869.1:n.6163_6164insGTGAGAG
XR_001748870.2:n.6163_6164insGTGAGAG
NM_025114.4:c.4958_4959insGTGAGAG MANE Select	NP_079390.3:p.Gln1654Ter