Canonical Allele Identifier: CA233670

Gene: CEP290

Linked Data

• ClinVar Variation Id: 166831
• ClinVar RCV Id: RCV000201601 ; RCV000790777 ; RCV001230296 ; RCV002492571 ; RCV003467210
• dbSNP Id: rs727503853
• gnomAD v2: 12-88471093-CTTTG-C
• gnomAD v4: 12-88077316-CTTTG-C
• MyVariant Identifiers: chr12:g.88471094_88471097del (hg19) ; chr12:g.88471094_88471097delTTTG (hg19) ; chr12:g.88077317_88077320del (hg38)
• PubMed: PMID:26092869

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88077320_88077323del , CM000674.2:g.88077320_88077323del	GRCh38
NC_000012.11:g.88471097_88471100del , CM000674.1:g.88471097_88471100del	GRCh37
NC_000012.10:g.86995228_86995231del	NCBI36
NG_008417.1:g.69897_69900del
NG_008417.2:g.69897_69900del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.5611_5614del	ENSP00000308021.8:p.Gln1871ValfsTer2
ENST00000547691.8:c.2895_2898del
ENST00000552810.6:c.5611_5614del MANE Select	ENSP00000448012.1:p.Gln1871ValfsTer2
ENST00000672414.2:c.*3782_*3785del	ENSP00000500729.1:n.*3782_*3785del
ENST00000672647.1:n.3971_3974del
ENST00000673058.2:c.5611_5614del	ENSP00000500665.2:p.Gln1871ValfsTer2
ENST00000674971.1:c.5611_5614del	ENSP00000502194.1:p.Gln1871ValfsTer2
ENST00000675230.1:c.5590_5593del	ENSP00000502503.1:p.Gln1864ValfsTer2
ENST00000675408.1:c.5611_5614del	ENSP00000502298.1:p.Gln1871ValfsTer2
ENST00000675476.1:c.6472_6475del	ENSP00000502161.1:p.Gln2158ValfsTer2
ENST00000675628.1:n.5838_5841del
ENST00000675794.1:c.*3782_*3785del	ENSP00000502841.1:n.*3782_*3785del
ENST00000675833.1:c.6379_6382del	ENSP00000502559.1:p.Gln2127ValfsTer2
ENST00000675894.1:n.1916_1919del
ENST00000676074.1:c.5611_5614del	ENSP00000502079.1:p.Gln1871ValfsTer2
ENST00000676181.1:n.4539_4542del
ENST00000676363.1:n.11337_11340del
ENST00000676448.1:c.*3524_*3527del	ENSP00000501987.1:n.*3524_*3527del
ENST00000309041.11:c.5617_5620del	ENSP00000308021.7:p.Gln1873ValfsTer2
ENST00000547691.6:c.2791_2794del	ENSP00000446905.1:p.Gln931ValfsTer2
ENST00000552810.5:c.5611_5614del	ENSP00000448012.1:p.Gln1871ValfsTer2
NM_025114.3:c.5611_5614del	NP_079390.3:p.Gln1871ValfsTer2
XM_011538756.1:c.6472_6475del	XP_011537058.1:p.Gln2158ValfsTer2
XM_011538757.1:c.6472_6475del	XP_011537059.1:p.Gln2158ValfsTer2
XM_011538758.1:c.6472_6475del	XP_011537060.1:p.Gln2158ValfsTer2
XM_011538759.1:c.6472_6475del	XP_011537061.1:p.Gln2158ValfsTer2
XM_011538760.1:c.6472_6475del	XP_011537062.1:p.Gln2158ValfsTer2
XM_011538761.1:c.6472_6475del	XP_011537063.1:p.Gln2158ValfsTer2
XM_011538762.1:c.5704_5707del	XP_011537064.1:p.Gln1902ValfsTer2
XM_011538763.1:c.5611_5614del	XP_011537065.1:p.Gln1871ValfsTer2
XM_011538764.1:c.6472_6475del	XP_011537066.1:p.Gln2158ValfsTer2
XM_011538765.1:c.6472_6475del	XP_011537067.1:p.Gln2158ValfsTer2
XM_011538766.1:c.4933_4936del	XP_011537068.1:p.Gln1645ValfsTer2
XR_945163.1:n.968-4993_968-4990del
XM_011538756.3:c.6472_6475del	XP_011537058.1:p.Gln2158ValfsTer2
XM_011538757.3:c.6472_6475del	XP_011537059.1:p.Gln2158ValfsTer2
XM_011538758.3:c.6472_6475del	XP_011537060.1:p.Gln2158ValfsTer2
XM_011538759.2:c.6472_6475del	XP_011537061.1:p.Gln2158ValfsTer2
XM_011538760.2:c.6472_6475del	XP_011537062.1:p.Gln2158ValfsTer2
XM_011538761.2:c.6472_6475del	XP_011537063.1:p.Gln2158ValfsTer2
XM_011538762.3:c.5704_5707del	XP_011537064.1:p.Gln1902ValfsTer2
XM_011538763.3:c.5611_5614del	XP_011537065.1:p.Gln1871ValfsTer2
XM_011538764.3:c.6472_6475del	XP_011537066.1:p.Gln2158ValfsTer2
XM_011538765.3:c.6472_6475del	XP_011537067.1:p.Gln2158ValfsTer2
XM_011538766.3:c.4933_4936del	XP_011537068.1:p.Gln1645ValfsTer2
XM_017019980.2:c.6472_6475del	XP_016875469.1:p.Gln2158ValfsTer2
XM_017019981.2:c.6472_6475del	XP_016875470.1:p.Gln2158ValfsTer2
XM_017019982.1:c.6472_6475del	XP_016875471.1:p.Gln2158ValfsTer2
XM_017019983.2:c.5590_5593del	XP_016875472.1:p.Gln1864ValfsTer2
XR_001748869.1:n.6816_6819del
XR_001748870.2:n.6816_6819del
NM_025114.4:c.5611_5614del MANE Select	NP_079390.3:p.Gln1871ValfsTer2