Canonical Allele Identifier: CA2575242998

Gene: CEP290

Linked Data

• ClinVar Variation Id: 2933463
• ClinVar RCV Id: RCV003790581

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88083137_88083138del , CM000674.2:g.88083137_88083138del	GRCh38
NC_000012.11:g.88476914_88476915del , CM000674.1:g.88476914_88476915del	GRCh37
NC_000012.10:g.87001045_87001046del	NCBI36
NG_008417.1:g.64083_64084del
NG_008417.2:g.64083_64084del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.4909_4910del	ENSP00000308021.8:p.Leu1637PhefsTer22
ENST00000547691.8:c.2193_2194del
ENST00000552810.6:c.4909_4910del MANE Select	ENSP00000448012.1:p.Leu1637PhefsTer22
ENST00000672414.2:c.*3080_*3081del	ENSP00000500729.1:n.*3080_*3081del
ENST00000672647.1:n.3269_3270del
ENST00000673058.2:c.4909_4910del	ENSP00000500665.2:p.Leu1637PhefsTer22
ENST00000674971.1:c.4909_4910del	ENSP00000502194.1:p.Leu1637PhefsTer22
ENST00000675230.1:c.4888_4889del	ENSP00000502503.1:p.Leu1630PhefsTer22
ENST00000675408.1:c.4909_4910del	ENSP00000502298.1:p.Leu1637PhefsTer22
ENST00000675476.1:c.5770_5771del	ENSP00000502161.1:p.Leu1924PhefsTer22
ENST00000675628.1:n.5136_5137del
ENST00000675794.1:c.*3080_*3081del	ENSP00000502841.1:n.*3080_*3081del
ENST00000675833.1:c.5677_5678del	ENSP00000502559.1:p.Leu1893PhefsTer22
ENST00000675894.1:n.1214_1215del
ENST00000676074.1:c.4909_4910del	ENSP00000502079.1:p.Leu1637PhefsTer22
ENST00000676181.1:n.3837_3838del
ENST00000676363.1:n.10635_10636del
ENST00000676448.1:c.*2822_*2823del	ENSP00000501987.1:n.*2822_*2823del
ENST00000309041.11:c.4915_4916del	ENSP00000308021.7:p.Leu1639PhefsTer22
ENST00000547691.6:c.2089_2090del	ENSP00000446905.1:p.Leu697PhefsTer22
ENST00000552810.5:c.4909_4910del	ENSP00000448012.1:p.Leu1637PhefsTer22
NM_025114.3:c.4909_4910del	NP_079390.3:p.Leu1637PhefsTer22
XM_011538756.1:c.5770_5771del	XP_011537058.1:p.Leu1924PhefsTer22
XM_011538757.1:c.5770_5771del	XP_011537059.1:p.Leu1924PhefsTer22
XM_011538758.1:c.5770_5771del	XP_011537060.1:p.Leu1924PhefsTer22
XM_011538759.1:c.5770_5771del	XP_011537061.1:p.Leu1924PhefsTer22
XM_011538760.1:c.5770_5771del	XP_011537062.1:p.Leu1924PhefsTer22
XM_011538761.1:c.5770_5771del	XP_011537063.1:p.Leu1924PhefsTer22
XM_011538762.1:c.5002_5003del	XP_011537064.1:p.Leu1668PhefsTer22
XM_011538763.1:c.4909_4910del	XP_011537065.1:p.Leu1637PhefsTer22
XM_011538764.1:c.5770_5771del	XP_011537066.1:p.Leu1924PhefsTer22
XM_011538765.1:c.5770_5771del	XP_011537067.1:p.Leu1924PhefsTer22
XM_011538766.1:c.4231_4232del	XP_011537068.1:p.Leu1411PhefsTer22
XM_011538756.3:c.5770_5771del	XP_011537058.1:p.Leu1924PhefsTer22
XM_011538757.3:c.5770_5771del	XP_011537059.1:p.Leu1924PhefsTer22
XM_011538758.3:c.5770_5771del	XP_011537060.1:p.Leu1924PhefsTer22
XM_011538759.2:c.5770_5771del	XP_011537061.1:p.Leu1924PhefsTer22
XM_011538760.2:c.5770_5771del	XP_011537062.1:p.Leu1924PhefsTer22
XM_011538761.2:c.5770_5771del	XP_011537063.1:p.Leu1924PhefsTer22
XM_011538762.3:c.5002_5003del	XP_011537064.1:p.Leu1668PhefsTer22
XM_011538763.3:c.4909_4910del	XP_011537065.1:p.Leu1637PhefsTer22
XM_011538764.3:c.5770_5771del	XP_011537066.1:p.Leu1924PhefsTer22
XM_011538765.3:c.5770_5771del	XP_011537067.1:p.Leu1924PhefsTer22
XM_011538766.3:c.4231_4232del	XP_011537068.1:p.Leu1411PhefsTer22
XM_017019980.2:c.5770_5771del	XP_016875469.1:p.Leu1924PhefsTer22
XM_017019981.2:c.5770_5771del	XP_016875470.1:p.Leu1924PhefsTer22
XM_017019982.1:c.5770_5771del	XP_016875471.1:p.Leu1924PhefsTer22
XM_017019983.2:c.4888_4889del	XP_016875472.1:p.Leu1630PhefsTer22
XR_001748869.1:n.6114_6115del
XR_001748870.2:n.6114_6115del
NM_025114.4:c.4909_4910del MANE Select	NP_079390.3:p.Leu1637PhefsTer22