Canonical Allele Identifier: CA2796876059

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88089462_88089463del , CM000674.2:g.88089462_88089463del	GRCh38
NC_000012.11:g.88483239_88483240del , CM000674.1:g.88483239_88483240del	GRCh37
NC_000012.10:g.87007370_87007371del	NCBI36
NG_008417.1:g.57754_57755del
NG_008417.2:g.57754_57755del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.3598_3599del	ENSP00000308021.8:p.Ile1200CysfsTer7
ENST00000547691.8:c.882_883del
ENST00000552810.6:c.3598_3599del MANE Select	ENSP00000448012.1:p.Ile1200CysfsTer7
ENST00000672414.2:c.*1769_*1770del	ENSP00000500729.1:n.*1769_*1770del
ENST00000672647.1:n.1958_1959del
ENST00000673058.2:c.3598_3599del	ENSP00000500665.2:p.Ile1200CysfsTer7
ENST00000674971.1:c.3598_3599del	ENSP00000502194.1:p.Ile1200CysfsTer7
ENST00000675089.1:c.423_424del	ENSP00000501582.1:n.423_424del
ENST00000675230.1:c.3577_3578del	ENSP00000502503.1:p.Ile1193CysfsTer7
ENST00000675408.1:c.3598_3599del	ENSP00000502298.1:p.Ile1200CysfsTer7
ENST00000675476.1:c.4459_4460del	ENSP00000502161.1:p.Ile1487CysfsTer7
ENST00000675628.1:n.3825_3826del
ENST00000675794.1:c.*1769_*1770del	ENSP00000502841.1:n.*1769_*1770del
ENST00000675833.1:c.4366_4367del	ENSP00000502559.1:p.Ile1456CysfsTer7
ENST00000676074.1:c.3598_3599del	ENSP00000502079.1:p.Ile1200CysfsTer7
ENST00000676181.1:n.2526_2527del
ENST00000676363.1:n.9324_9325del
ENST00000676448.1:c.*1511_*1512del	ENSP00000501987.1:n.*1511_*1512del
ENST00000309041.11:c.3604_3605del	ENSP00000308021.7:p.Ile1202CysfsTer7
ENST00000547691.6:c.778_779del	ENSP00000446905.1:p.Ile260CysfsTer7
ENST00000552810.5:c.3598_3599del	ENSP00000448012.1:p.Ile1200CysfsTer7
NM_025114.3:c.3598_3599del	NP_079390.3:p.Ile1200CysfsTer7
XM_011538756.1:c.4459_4460del	XP_011537058.1:p.Ile1487CysfsTer7
XM_011538757.1:c.4459_4460del	XP_011537059.1:p.Ile1487CysfsTer7
XM_011538758.1:c.4459_4460del	XP_011537060.1:p.Ile1487CysfsTer7
XM_011538759.1:c.4459_4460del	XP_011537061.1:p.Ile1487CysfsTer7
XM_011538760.1:c.4459_4460del	XP_011537062.1:p.Ile1487CysfsTer7
XM_011538761.1:c.4459_4460del	XP_011537063.1:p.Ile1487CysfsTer7
XM_011538762.1:c.3691_3692del	XP_011537064.1:p.Ile1231CysfsTer7
XM_011538763.1:c.3598_3599del	XP_011537065.1:p.Ile1200CysfsTer7
XM_011538764.1:c.4459_4460del	XP_011537066.1:p.Ile1487CysfsTer7
XM_011538765.1:c.4459_4460del	XP_011537067.1:p.Ile1487CysfsTer7
XM_011538766.1:c.2920_2921del	XP_011537068.1:p.Ile974CysfsTer7
XM_011538756.3:c.4459_4460del	XP_011537058.1:p.Ile1487CysfsTer7
XM_011538757.3:c.4459_4460del	XP_011537059.1:p.Ile1487CysfsTer7
XM_011538758.3:c.4459_4460del	XP_011537060.1:p.Ile1487CysfsTer7
XM_011538759.2:c.4459_4460del	XP_011537061.1:p.Ile1487CysfsTer7
XM_011538760.2:c.4459_4460del	XP_011537062.1:p.Ile1487CysfsTer7
XM_011538761.2:c.4459_4460del	XP_011537063.1:p.Ile1487CysfsTer7
XM_011538762.3:c.3691_3692del	XP_011537064.1:p.Ile1231CysfsTer7
XM_011538763.3:c.3598_3599del	XP_011537065.1:p.Ile1200CysfsTer7
XM_011538764.3:c.4459_4460del	XP_011537066.1:p.Ile1487CysfsTer7
XM_011538765.3:c.4459_4460del	XP_011537067.1:p.Ile1487CysfsTer7
XM_011538766.3:c.2920_2921del	XP_011537068.1:p.Ile974CysfsTer7
XM_017019980.2:c.4459_4460del	XP_016875469.1:p.Ile1487CysfsTer7
XM_017019981.2:c.4459_4460del	XP_016875470.1:p.Ile1487CysfsTer7
XM_017019982.1:c.4459_4460del	XP_016875471.1:p.Ile1487CysfsTer7
XM_017019983.2:c.3577_3578del	XP_016875472.1:p.Ile1193CysfsTer7
XR_001748869.1:n.4803_4804del
XR_001748870.2:n.4803_4804del
NM_025114.4:c.3598_3599del MANE Select	NP_079390.3:p.Ile1200CysfsTer7