Canonical Allele Identifier: CA2052905159

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88083921_88083922delinsCT , CM000674.2:g.88083921_88083922delinsCT	GRCh38
NC_000012.11:g.88477698_88477699delinsCT , CM000674.1:g.88477698_88477699delinsCT	GRCh37
NC_000012.10:g.87001829_87001830delinsCT	NCBI36
NG_008417.1:g.63295_63296delinsAG
NG_008417.2:g.63295_63296delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.4737_4738delinsAG	ENSP00000308021.8:p.Glu1579=
ENST00000547691.8:c.2021_2022delinsAG
ENST00000552810.6:c.4737_4738delinsAG MANE Select	ENSP00000448012.1:p.Glu1579=
ENST00000672414.2:c.*2908_*2909delinsAG	ENSP00000500729.1:n.*2908_*2909delinsAG
ENST00000672647.1:n.3097_3098delinsAG
ENST00000673058.2:c.4737_4738delinsAG	ENSP00000500665.2:p.Glu1579=
ENST00000674971.1:c.4737_4738delinsAG	ENSP00000502194.1:p.Glu1579=
ENST00000675230.1:c.4716_4717delinsAG	ENSP00000502503.1:p.Glu1572=
ENST00000675408.1:c.4737_4738delinsAG	ENSP00000502298.1:p.Glu1579=
ENST00000675476.1:c.5598_5599delinsAG	ENSP00000502161.1:p.Glu1866=
ENST00000675628.1:n.4964_4965delinsAG
ENST00000675794.1:c.*2908_*2909delinsAG	ENSP00000502841.1:n.*2908_*2909delinsAG
ENST00000675833.1:c.5505_5506delinsAG	ENSP00000502559.1:p.Glu1835=
ENST00000675894.1:n.1042_1043delinsAG
ENST00000676074.1:c.4737_4738delinsAG	ENSP00000502079.1:p.Glu1579=
ENST00000676181.1:n.3665_3666delinsAG
ENST00000676363.1:n.10463_10464delinsAG
ENST00000676448.1:c.*2650_*2651delinsAG	ENSP00000501987.1:n.*2650_*2651delinsAG
ENST00000309041.11:c.4743_4744delinsAG	ENSP00000308021.7:p.Glu1581=
ENST00000547691.6:c.1917_1918delinsAG	ENSP00000446905.1:p.Glu639=
ENST00000552810.5:c.4737_4738delinsAG	ENSP00000448012.1:p.Glu1579=
NM_025114.3:c.4737_4738delinsAG	NP_079390.3:p.Glu1579=
XM_011538756.1:c.5598_5599delinsAG	XP_011537058.1:p.Glu1866=
XM_011538757.1:c.5598_5599delinsAG	XP_011537059.1:p.Glu1866=
XM_011538758.1:c.5598_5599delinsAG	XP_011537060.1:p.Glu1866=
XM_011538759.1:c.5598_5599delinsAG	XP_011537061.1:p.Glu1866=
XM_011538760.1:c.5598_5599delinsAG	XP_011537062.1:p.Glu1866=
XM_011538761.1:c.5598_5599delinsAG	XP_011537063.1:p.Glu1866=
XM_011538762.1:c.4830_4831delinsAG	XP_011537064.1:p.Glu1610=
XM_011538763.1:c.4737_4738delinsAG	XP_011537065.1:p.Glu1579=
XM_011538764.1:c.5598_5599delinsAG	XP_011537066.1:p.Glu1866=
XM_011538765.1:c.5598_5599delinsAG	XP_011537067.1:p.Glu1866=
XM_011538766.1:c.4059_4060delinsAG	XP_011537068.1:p.Glu1353=
XM_011538756.3:c.5598_5599delinsAG	XP_011537058.1:p.Glu1866=
XM_011538757.3:c.5598_5599delinsAG	XP_011537059.1:p.Glu1866=
XM_011538758.3:c.5598_5599delinsAG	XP_011537060.1:p.Glu1866=
XM_011538759.2:c.5598_5599delinsAG	XP_011537061.1:p.Glu1866=
XM_011538760.2:c.5598_5599delinsAG	XP_011537062.1:p.Glu1866=
XM_011538761.2:c.5598_5599delinsAG	XP_011537063.1:p.Glu1866=
XM_011538762.3:c.4830_4831delinsAG	XP_011537064.1:p.Glu1610=
XM_011538763.3:c.4737_4738delinsAG	XP_011537065.1:p.Glu1579=
XM_011538764.3:c.5598_5599delinsAG	XP_011537066.1:p.Glu1866=
XM_011538765.3:c.5598_5599delinsAG	XP_011537067.1:p.Glu1866=
XM_011538766.3:c.4059_4060delinsAG	XP_011537068.1:p.Glu1353=
XM_017019980.2:c.5598_5599delinsAG	XP_016875469.1:p.Glu1866=
XM_017019981.2:c.5598_5599delinsAG	XP_016875470.1:p.Glu1866=
XM_017019982.1:c.5598_5599delinsAG	XP_016875471.1:p.Glu1866=
XM_017019983.2:c.4716_4717delinsAG	XP_016875472.1:p.Glu1572=
XR_001748869.1:n.5942_5943delinsAG
XR_001748870.2:n.5942_5943delinsAG
NM_025114.4:c.4737_4738delinsAG MANE Select	NP_079390.3:p.Glu1579=