Canonical Allele Identifier: CA693051652

Gene: CEP290

Linked Data

• dbSNP Id: rs1474236880
• MyVariant Identifiers: chr12:g.88470643_88470644insGTCCCAAAAGTCTATCTTTCT (hg19) ; chr12:g.88076866_88076867insGTCCCAAAAGTCTATCTTTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88076867_88076868insTCCCAAAAGTCTATCTTTCTG , CM000674.2:g.88076867_88076868insTCCCAAAAGTCTATCTTTCTG	GRCh38
NC_000012.11:g.88470644_88470645insTCCCAAAAGTCTATCTTTCTG , CM000674.1:g.88470644_88470645insTCCCAAAAGTCTATCTTTCTG	GRCh37
NC_000012.10:g.86994775_86994776insTCCCAAAAGTCTATCTTTCTG	NCBI36
NG_008417.1:g.70350_70351insAGAAAGATAGACTTTTGGGAC
NG_008417.2:g.70350_70351insAGAAAGATAGACTTTTGGGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.5709+355_5709+356insAGAAAGATAGACTTTTGGGAC	ENSP00000308021.8:n.5709+355_5709+356insAGAAAGATAGACTTTTGGGAC...
ENST00000547691.8:c.2993+355_2993+356insAGAAAGATAGACTTTTGGGAC
ENST00000552810.6:c.5709+355_5709+356insAGAAAGATAGACTTTTGGGAC MANE Select	ENSP00000448012.1:n.5709+355_5709+356insAGAAAGATAGACTTTTGGGAC...
ENST00000672414.2:c.*3880+355_*3880+356insAGAAAGATAGACTTTTGGGAC	ENSP00000500729.1:n.*3880+355_*3880+356insAGAAAGATAGACTTTTGGG...
ENST00000672647.1:n.4069+355_4069+356insAGAAAGATAGACTTTTGGGAC
ENST00000673058.2:c.5709+355_5709+356insAGAAAGATAGACTTTTGGGAC	ENSP00000500665.2:n.5709+355_5709+356insAGAAAGATAGACTTTTGGGAC...
ENST00000674971.1:c.5709+355_5709+356insAGAAAGATAGACTTTTGGGAC	ENSP00000502194.1:n.5709+355_5709+356insAGAAAGATAGACTTTTGGGAC...
ENST00000675230.1:c.5688+355_5688+356insAGAAAGATAGACTTTTGGGAC	ENSP00000502503.1:n.5688+355_5688+356insAGAAAGATAGACTTTTGGGAC...
ENST00000675408.1:c.5709+355_5709+356insAGAAAGATAGACTTTTGGGAC	ENSP00000502298.1:n.5709+355_5709+356insAGAAAGATAGACTTTTGGGAC...
ENST00000675476.1:c.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC	ENSP00000502161.1:n.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC...
ENST00000675628.1:n.5936+355_5936+356insAGAAAGATAGACTTTTGGGAC
ENST00000675794.1:c.*3880+355_*3880+356insAGAAAGATAGACTTTTGGGAC	ENSP00000502841.1:n.*3880+355_*3880+356insAGAAAGATAGACTTTTGGG...
ENST00000675833.1:c.6477+355_6477+356insAGAAAGATAGACTTTTGGGAC	ENSP00000502559.1:n.6477+355_6477+356insAGAAAGATAGACTTTTGGGAC...
ENST00000675894.1:n.2014+355_2014+356insAGAAAGATAGACTTTTGGGAC
ENST00000676074.1:c.5709+355_5709+356insAGAAAGATAGACTTTTGGGAC	ENSP00000502079.1:n.5709+355_5709+356insAGAAAGATAGACTTTTGGGAC...
ENST00000676181.1:n.4637+355_4637+356insAGAAAGATAGACTTTTGGGAC
ENST00000676363.1:n.11435+355_11435+356insAGAAAGATAGACTTTTGGGAC
ENST00000676448.1:c.*3622+355_*3622+356insAGAAAGATAGACTTTTGGGAC	ENSP00000501987.1:n.*3622+355_*3622+356insAGAAAGATAGACTTTTGGG...
ENST00000309041.11:c.5715+355_5715+356insAGAAAGATAGACTTTTGGGAC	ENSP00000308021.7:n.5715+355_5715+356insAGAAAGATAGACTTTTGGGAC...
ENST00000547691.6:c.2889+355_2889+356insAGAAAGATAGACTTTTGGGAC	ENSP00000446905.1:n.2889+355_2889+356insAGAAAGATAGACTTTTGGGAC...
ENST00000552810.5:c.5709+355_5709+356insAGAAAGATAGACTTTTGGGAC	ENSP00000448012.1:n.5709+355_5709+356insAGAAAGATAGACTTTTGGGAC...
NM_025114.3:c.5709+355_5709+356insAGAAAGATAGACTTTTGGGAC	NP_079390.3:n.5709+355_5709+356insAGAAAGATAGACTTTTGGGAC
XM_011538756.1:c.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC	XP_011537058.1:n.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC
XM_011538757.1:c.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC	XP_011537059.1:n.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC
XM_011538758.1:c.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC	XP_011537060.1:n.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC
XM_011538759.1:c.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC	XP_011537061.1:n.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC
XM_011538760.1:c.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC	XP_011537062.1:n.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC
XM_011538761.1:c.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC	XP_011537063.1:n.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC
XM_011538762.1:c.5802+355_5802+356insAGAAAGATAGACTTTTGGGAC	XP_011537064.1:n.5802+355_5802+356insAGAAAGATAGACTTTTGGGAC
XM_011538763.1:c.5709+355_5709+356insAGAAAGATAGACTTTTGGGAC	XP_011537065.1:n.5709+355_5709+356insAGAAAGATAGACTTTTGGGAC
XM_011538764.1:c.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC	XP_011537066.1:n.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC
XM_011538765.1:c.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC	XP_011537067.1:n.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC
XM_011538766.1:c.5031+355_5031+356insAGAAAGATAGACTTTTGGGAC	XP_011537068.1:n.5031+355_5031+356insAGAAAGATAGACTTTTGGGAC
XR_945163.1:n.968-5446_968-5445insTCCCAAAAGTCTATCTTTCTG
XM_011538756.3:c.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC	XP_011537058.1:n.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC
XM_011538757.3:c.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC	XP_011537059.1:n.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC
XM_011538758.3:c.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC	XP_011537060.1:n.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC
XM_011538759.2:c.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC	XP_011537061.1:n.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC
XM_011538760.2:c.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC	XP_011537062.1:n.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC
XM_011538761.2:c.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC	XP_011537063.1:n.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC
XM_011538762.3:c.5802+355_5802+356insAGAAAGATAGACTTTTGGGAC	XP_011537064.1:n.5802+355_5802+356insAGAAAGATAGACTTTTGGGAC
XM_011538763.3:c.5709+355_5709+356insAGAAAGATAGACTTTTGGGAC	XP_011537065.1:n.5709+355_5709+356insAGAAAGATAGACTTTTGGGAC
XM_011538764.3:c.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC	XP_011537066.1:n.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC
XM_011538765.3:c.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC	XP_011537067.1:n.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC
XM_011538766.3:c.5031+355_5031+356insAGAAAGATAGACTTTTGGGAC	XP_011537068.1:n.5031+355_5031+356insAGAAAGATAGACTTTTGGGAC
XM_017019980.2:c.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC	XP_016875469.1:n.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC
XM_017019981.2:c.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC	XP_016875470.1:n.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC
XM_017019982.1:c.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC	XP_016875471.1:n.6570+355_6570+356insAGAAAGATAGACTTTTGGGAC
XM_017019983.2:c.5688+355_5688+356insAGAAAGATAGACTTTTGGGAC	XP_016875472.1:n.5688+355_5688+356insAGAAAGATAGACTTTTGGGAC
XR_001748869.1:n.6914+355_6914+356insAGAAAGATAGACTTTTGGGAC
XR_001748870.2:n.6914+355_6914+356insAGAAAGATAGACTTTTGGGAC
NM_025114.4:c.5709+355_5709+356insAGAAAGATAGACTTTTGGGAC MANE Select	NP_079390.3:n.5709+355_5709+356insAGAAAGATAGACTTTTGGGAC