Canonical Allele Identifier: CA2052913607

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88076839_88076843delinsGTCTA , CM000674.2:g.88076839_88076843delinsGTCTA	GRCh38
NC_000012.11:g.88470616_88470620delinsGTCTA , CM000674.1:g.88470616_88470620delinsGTCTA	GRCh37
NC_000012.10:g.86994747_86994751delinsGTCTA	NCBI36
NG_008417.1:g.70374_70378delinsTAGAC
NG_008417.2:g.70374_70378delinsTAGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.5709+379_5709+383delinsTAGAC	ENSP00000308021.8:n.5709+379_5709+383delinsTAGAC
ENST00000547691.8:c.2993+379_2993+383delinsTAGAC
ENST00000552810.6:c.5709+379_5709+383delinsTAGAC MANE Select	ENSP00000448012.1:n.5709+379_5709+383delinsTAGAC
ENST00000672414.2:c.*3880+379_*3880+383delinsTAGAC	ENSP00000500729.1:n.*3880+379_*3880+383delinsTAGAC
ENST00000672647.1:n.4069+379_4069+383delinsTAGAC
ENST00000673058.2:c.5709+379_5709+383delinsTAGAC	ENSP00000500665.2:n.5709+379_5709+383delinsTAGAC
ENST00000674971.1:c.5709+379_5709+383delinsTAGAC	ENSP00000502194.1:n.5709+379_5709+383delinsTAGAC
ENST00000675230.1:c.5688+379_5688+383delinsTAGAC	ENSP00000502503.1:n.5688+379_5688+383delinsTAGAC
ENST00000675408.1:c.5709+379_5709+383delinsTAGAC	ENSP00000502298.1:n.5709+379_5709+383delinsTAGAC
ENST00000675476.1:c.6570+379_6570+383delinsTAGAC	ENSP00000502161.1:n.6570+379_6570+383delinsTAGAC
ENST00000675628.1:n.5936+379_5936+383delinsTAGAC
ENST00000675794.1:c.*3880+379_*3880+383delinsTAGAC	ENSP00000502841.1:n.*3880+379_*3880+383delinsTAGAC
ENST00000675833.1:c.6477+379_6477+383delinsTAGAC	ENSP00000502559.1:n.6477+379_6477+383delinsTAGAC
ENST00000675894.1:n.2014+379_2014+383delinsTAGAC
ENST00000676074.1:c.5709+379_5709+383delinsTAGAC	ENSP00000502079.1:n.5709+379_5709+383delinsTAGAC
ENST00000676181.1:n.4637+379_4637+383delinsTAGAC
ENST00000676363.1:n.11435+379_11435+383delinsTAGAC
ENST00000676448.1:c.*3622+379_*3622+383delinsTAGAC	ENSP00000501987.1:n.*3622+379_*3622+383delinsTAGAC
ENST00000309041.11:c.5715+379_5715+383delinsTAGAC	ENSP00000308021.7:n.5715+379_5715+383delinsTAGAC
ENST00000547691.6:c.2889+379_2889+383delinsTAGAC	ENSP00000446905.1:n.2889+379_2889+383delinsTAGAC
ENST00000552810.5:c.5709+379_5709+383delinsTAGAC	ENSP00000448012.1:n.5709+379_5709+383delinsTAGAC
NM_025114.3:c.5709+379_5709+383delinsTAGAC	NP_079390.3:n.5709+379_5709+383delinsTAGAC
XM_011538756.1:c.6570+379_6570+383delinsTAGAC	XP_011537058.1:n.6570+379_6570+383delinsTAGAC
XM_011538757.1:c.6570+379_6570+383delinsTAGAC	XP_011537059.1:n.6570+379_6570+383delinsTAGAC
XM_011538758.1:c.6570+379_6570+383delinsTAGAC	XP_011537060.1:n.6570+379_6570+383delinsTAGAC
XM_011538759.1:c.6570+379_6570+383delinsTAGAC	XP_011537061.1:n.6570+379_6570+383delinsTAGAC
XM_011538760.1:c.6570+379_6570+383delinsTAGAC	XP_011537062.1:n.6570+379_6570+383delinsTAGAC
XM_011538761.1:c.6570+379_6570+383delinsTAGAC	XP_011537063.1:n.6570+379_6570+383delinsTAGAC
XM_011538762.1:c.5802+379_5802+383delinsTAGAC	XP_011537064.1:n.5802+379_5802+383delinsTAGAC
XM_011538763.1:c.5709+379_5709+383delinsTAGAC	XP_011537065.1:n.5709+379_5709+383delinsTAGAC
XM_011538764.1:c.6570+379_6570+383delinsTAGAC	XP_011537066.1:n.6570+379_6570+383delinsTAGAC
XM_011538765.1:c.6570+379_6570+383delinsTAGAC	XP_011537067.1:n.6570+379_6570+383delinsTAGAC
XM_011538766.1:c.5031+379_5031+383delinsTAGAC	XP_011537068.1:n.5031+379_5031+383delinsTAGAC
XR_945163.1:n.968-5474_968-5470delinsGTCTA
XM_011538756.3:c.6570+379_6570+383delinsTAGAC	XP_011537058.1:n.6570+379_6570+383delinsTAGAC
XM_011538757.3:c.6570+379_6570+383delinsTAGAC	XP_011537059.1:n.6570+379_6570+383delinsTAGAC
XM_011538758.3:c.6570+379_6570+383delinsTAGAC	XP_011537060.1:n.6570+379_6570+383delinsTAGAC
XM_011538759.2:c.6570+379_6570+383delinsTAGAC	XP_011537061.1:n.6570+379_6570+383delinsTAGAC
XM_011538760.2:c.6570+379_6570+383delinsTAGAC	XP_011537062.1:n.6570+379_6570+383delinsTAGAC
XM_011538761.2:c.6570+379_6570+383delinsTAGAC	XP_011537063.1:n.6570+379_6570+383delinsTAGAC
XM_011538762.3:c.5802+379_5802+383delinsTAGAC	XP_011537064.1:n.5802+379_5802+383delinsTAGAC
XM_011538763.3:c.5709+379_5709+383delinsTAGAC	XP_011537065.1:n.5709+379_5709+383delinsTAGAC
XM_011538764.3:c.6570+379_6570+383delinsTAGAC	XP_011537066.1:n.6570+379_6570+383delinsTAGAC
XM_011538765.3:c.6570+379_6570+383delinsTAGAC	XP_011537067.1:n.6570+379_6570+383delinsTAGAC
XM_011538766.3:c.5031+379_5031+383delinsTAGAC	XP_011537068.1:n.5031+379_5031+383delinsTAGAC
XM_017019980.2:c.6570+379_6570+383delinsTAGAC	XP_016875469.1:n.6570+379_6570+383delinsTAGAC
XM_017019981.2:c.6570+379_6570+383delinsTAGAC	XP_016875470.1:n.6570+379_6570+383delinsTAGAC
XM_017019982.1:c.6570+379_6570+383delinsTAGAC	XP_016875471.1:n.6570+379_6570+383delinsTAGAC
XM_017019983.2:c.5688+379_5688+383delinsTAGAC	XP_016875472.1:n.5688+379_5688+383delinsTAGAC
XR_001748869.1:n.6914+379_6914+383delinsTAGAC
XR_001748870.2:n.6914+379_6914+383delinsTAGAC
NM_025114.4:c.5709+379_5709+383delinsTAGAC MANE Select	NP_079390.3:n.5709+379_5709+383delinsTAGAC