Canonical Allele Identifier: CA1139662799

Gene: CEP290

Linked Data

• ClinVar Variation Id: 934584
• ClinVar RCV Id: RCV001203000
• dbSNP Id: rs2036372197

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88083849_88083853del , CM000674.2:g.88083849_88083853del	GRCh38
NC_000012.11:g.88477626_88477630del , CM000674.1:g.88477626_88477630del	GRCh37
NC_000012.10:g.87001757_87001761del	NCBI36
NG_008417.1:g.63366_63370del
NG_008417.2:g.63366_63370del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.4808_4812del	ENSP00000308021.8:p.Ala1603GlyfsTer21
ENST00000547691.8:c.2092_2096del
ENST00000552810.6:c.4808_4812del MANE Select	ENSP00000448012.1:p.Ala1603GlyfsTer21
ENST00000672414.2:c.*2979_*2983del	ENSP00000500729.1:n.*2979_*2983del
ENST00000672647.1:n.3168_3172del
ENST00000673058.2:c.4808_4812del	ENSP00000500665.2:p.Ala1603GlyfsTer21
ENST00000674971.1:c.4808_4812del	ENSP00000502194.1:p.Ala1603GlyfsTer21
ENST00000675230.1:c.4787_4791del	ENSP00000502503.1:p.Ala1596GlyfsTer21
ENST00000675408.1:c.4808_4812del	ENSP00000502298.1:p.Ala1603GlyfsTer21
ENST00000675476.1:c.5669_5673del	ENSP00000502161.1:p.Ala1890GlyfsTer21
ENST00000675628.1:n.5035_5039del
ENST00000675794.1:c.*2979_*2983del	ENSP00000502841.1:n.*2979_*2983del
ENST00000675833.1:c.5576_5580del	ENSP00000502559.1:p.Ala1859GlyfsTer21
ENST00000675894.1:n.1113_1117del
ENST00000676074.1:c.4808_4812del	ENSP00000502079.1:p.Ala1603GlyfsTer21
ENST00000676181.1:n.3736_3740del
ENST00000676363.1:n.10534_10538del
ENST00000676448.1:c.*2721_*2725del	ENSP00000501987.1:n.*2721_*2725del
ENST00000309041.11:c.4814_4818del	ENSP00000308021.7:p.Ala1605GlyfsTer21
ENST00000547691.6:c.1988_1992del	ENSP00000446905.1:p.Ala663GlyfsTer21
ENST00000552810.5:c.4808_4812del	ENSP00000448012.1:p.Ala1603GlyfsTer21
NM_025114.3:c.4808_4812del	NP_079390.3:p.Ala1603GlyfsTer21
XM_011538756.1:c.5669_5673del	XP_011537058.1:p.Ala1890GlyfsTer21
XM_011538757.1:c.5669_5673del	XP_011537059.1:p.Ala1890GlyfsTer21
XM_011538758.1:c.5669_5673del	XP_011537060.1:p.Ala1890GlyfsTer21
XM_011538759.1:c.5669_5673del	XP_011537061.1:p.Ala1890GlyfsTer21
XM_011538760.1:c.5669_5673del	XP_011537062.1:p.Ala1890GlyfsTer21
XM_011538761.1:c.5669_5673del	XP_011537063.1:p.Ala1890GlyfsTer21
XM_011538762.1:c.4901_4905del	XP_011537064.1:p.Ala1634GlyfsTer21
XM_011538763.1:c.4808_4812del	XP_011537065.1:p.Ala1603GlyfsTer21
XM_011538764.1:c.5669_5673del	XP_011537066.1:p.Ala1890GlyfsTer21
XM_011538765.1:c.5669_5673del	XP_011537067.1:p.Ala1890GlyfsTer21
XM_011538766.1:c.4130_4134del	XP_011537068.1:p.Ala1377GlyfsTer21
XM_011538756.3:c.5669_5673del	XP_011537058.1:p.Ala1890GlyfsTer21
XM_011538757.3:c.5669_5673del	XP_011537059.1:p.Ala1890GlyfsTer21
XM_011538758.3:c.5669_5673del	XP_011537060.1:p.Ala1890GlyfsTer21
XM_011538759.2:c.5669_5673del	XP_011537061.1:p.Ala1890GlyfsTer21
XM_011538760.2:c.5669_5673del	XP_011537062.1:p.Ala1890GlyfsTer21
XM_011538761.2:c.5669_5673del	XP_011537063.1:p.Ala1890GlyfsTer21
XM_011538762.3:c.4901_4905del	XP_011537064.1:p.Ala1634GlyfsTer21
XM_011538763.3:c.4808_4812del	XP_011537065.1:p.Ala1603GlyfsTer21
XM_011538764.3:c.5669_5673del	XP_011537066.1:p.Ala1890GlyfsTer21
XM_011538765.3:c.5669_5673del	XP_011537067.1:p.Ala1890GlyfsTer21
XM_011538766.3:c.4130_4134del	XP_011537068.1:p.Ala1377GlyfsTer21
XM_017019980.2:c.5669_5673del	XP_016875469.1:p.Ala1890GlyfsTer21
XM_017019981.2:c.5669_5673del	XP_016875470.1:p.Ala1890GlyfsTer21
XM_017019982.1:c.5669_5673del	XP_016875471.1:p.Ala1890GlyfsTer21
XM_017019983.2:c.4787_4791del	XP_016875472.1:p.Ala1596GlyfsTer21
XR_001748869.1:n.6013_6017del
XR_001748870.2:n.6013_6017del
NM_025114.4:c.4808_4812del MANE Select	NP_079390.3:p.Ala1603GlyfsTer21