Canonical Allele Identifier: CA227984

Gene: CEP290

Linked Data

• ClinVar Variation Id: 99863
• ClinVar RCV Id: RCV000086301 ; RCV001385881 ; RCV002505022 ; RCV003467017
• dbSNP Id: rs62640578
• gnomAD v4: 12-88129865-TTC-T
• MyVariant Identifiers: chr12:g.88523643_88523644del (hg19) ; chr12:g.88129866_88129867del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88129867_88129868del , CM000674.2:g.88129867_88129868del	GRCh38
NC_000012.11:g.88523644_88523645del , CM000674.1:g.88523644_88523645del	GRCh37
NC_000012.10:g.87047775_87047776del	NCBI36
NG_008417.1:g.17350_17351del
NG_008417.2:g.17350_17351del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.679_680del	ENSP00000308021.8:p.Glu227SerfsTer2
ENST00000397838.8:c.625_626del	ENSP00000380938.5:p.Glu209SerfsTer2
ENST00000547926.7:c.679_680del	ENSP00000448573.3:p.Glu227SerfsTer2
ENST00000552810.6:c.679_680del MANE Select	ENSP00000448012.1:p.Glu227SerfsTer2
ENST00000671822.2:n.906_907del
ENST00000672414.2:c.679_680del	ENSP00000500729.1:p.Glu227SerfsTer2
ENST00000673058.2:c.679_680del	ENSP00000500665.2:p.Glu227SerfsTer2
ENST00000674971.1:c.679_680del	ENSP00000502194.1:p.Glu227SerfsTer2
ENST00000675230.1:c.658_659del	ENSP00000502503.1:p.Glu220SerfsTer2
ENST00000675408.1:c.679_680del	ENSP00000502298.1:p.Glu227SerfsTer2
ENST00000675476.1:c.679_680del	ENSP00000502161.1:p.Glu227SerfsTer2
ENST00000675559.1:c.679_680del	ENSP00000502163.1:p.Glu227SerfsTer2
ENST00000675628.1:n.906_907del
ENST00000675794.1:c.679_680del	ENSP00000502841.1:p.Glu227SerfsTer2
ENST00000675833.1:c.679_680del	ENSP00000502559.1:p.Glu227SerfsTer2
ENST00000676074.1:c.679_680del	ENSP00000502079.1:p.Glu227SerfsTer2
ENST00000676351.1:c.*192_*193del	ENSP00000502046.1:n.*192_*193del
ENST00000676363.1:n.2742_2743del
ENST00000676418.1:c.679_680del	ENSP00000502371.1:p.Glu227SerfsTer2
ENST00000676448.1:c.679_680del	ENSP00000501987.1:p.Glu227SerfsTer2
ENST00000309041.11:c.679_680del	ENSP00000308021.7:p.Glu227SerfsTer2
ENST00000397838.7:c.679_680del	ENSP00000380938.4:p.Glu227SerfsTer2
ENST00000547926.6:c.577_578del	ENSP00000448573.2:p.Glu193SerfsTer2
ENST00000552810.5:c.679_680del	ENSP00000448012.1:p.Glu227SerfsTer2
NM_025114.3:c.679_680del	NP_079390.3:p.Glu227SerfsTer2
XM_011538756.1:c.679_680del	XP_011537058.1:p.Glu227SerfsTer2
XM_011538757.1:c.679_680del	XP_011537059.1:p.Glu227SerfsTer2
XM_011538758.1:c.679_680del	XP_011537060.1:p.Glu227SerfsTer2
XM_011538759.1:c.679_680del	XP_011537061.1:p.Glu227SerfsTer2
XM_011538760.1:c.679_680del	XP_011537062.1:p.Glu227SerfsTer2
XM_011538761.1:c.679_680del	XP_011537063.1:p.Glu227SerfsTer2
XM_011538762.1:c.679_680del	XP_011537064.1:p.Glu227SerfsTer2
XM_011538763.1:c.679_680del	XP_011537065.1:p.Glu227SerfsTer2
XM_011538764.1:c.679_680del	XP_011537066.1:p.Glu227SerfsTer2
XM_011538765.1:c.679_680del	XP_011537067.1:p.Glu227SerfsTer2
XM_011538756.3:c.679_680del	XP_011537058.1:p.Glu227SerfsTer2
XM_011538757.3:c.679_680del	XP_011537059.1:p.Glu227SerfsTer2
XM_011538758.3:c.679_680del	XP_011537060.1:p.Glu227SerfsTer2
XM_011538759.2:c.679_680del	XP_011537061.1:p.Glu227SerfsTer2
XM_011538760.2:c.679_680del	XP_011537062.1:p.Glu227SerfsTer2
XM_011538761.2:c.679_680del	XP_011537063.1:p.Glu227SerfsTer2
XM_011538762.3:c.679_680del	XP_011537064.1:p.Glu227SerfsTer2
XM_011538763.3:c.679_680del	XP_011537065.1:p.Glu227SerfsTer2
XM_011538764.3:c.679_680del	XP_011537066.1:p.Glu227SerfsTer2
XM_011538765.3:c.679_680del	XP_011537067.1:p.Glu227SerfsTer2
XM_017019980.2:c.679_680del	XP_016875469.1:p.Glu227SerfsTer2
XM_017019981.2:c.679_680del	XP_016875470.1:p.Glu227SerfsTer2
XM_017019982.1:c.679_680del	XP_016875471.1:p.Glu227SerfsTer2
XM_017019983.2:c.658_659del	XP_016875472.1:p.Glu220SerfsTer2
XR_001748869.1:n.1023_1024del
XR_001748870.2:n.1023_1024del
NM_025114.4:c.679_680del MANE Select	NP_079390.3:p.Glu227SerfsTer2