Canonical Allele Identifier: CA6711412

Gene: CEP290

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88055674del , CM000674.2:g.88055674del	GRCh38
NC_000012.11:g.88449451del , CM000674.1:g.88449451del	GRCh37
NC_000012.10:g.86973582del	NCBI36
NG_008417.1:g.91550del
NG_008417.2:g.91550del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.6878del	ENSP00000308021.8:p.Asn2293IlefsTer11
ENST00000547691.8:c.3930-1254del
ENST00000552810.6:c.6869del MANE Select	ENSP00000448012.1:p.Asn2290IlefsTer11
ENST00000671777.2:n.648del
ENST00000672414.2:c.*4875del	ENSP00000500729.1:n.*4875del
ENST00000672647.1:n.5229del
ENST00000673058.2:c.6746del	ENSP00000500665.2:p.Asn2249IlefsTer11
ENST00000674712.1:n.396del
ENST00000674889.1:n.3822del
ENST00000674971.1:c.6869del	ENSP00000502194.1:p.Asn2290IlefsTer11
ENST00000675230.1:c.6848del	ENSP00000502503.1:p.Asn2283IlefsTer11
ENST00000675408.1:c.6704del	ENSP00000502298.1:p.Asn2235IlefsTer11
ENST00000675476.1:c.7730del	ENSP00000502161.1:p.Asn2577IlefsTer11
ENST00000675628.1:n.7096del
ENST00000675794.1:c.*5040del	ENSP00000502841.1:n.*5040del
ENST00000675833.1:c.7637del	ENSP00000502559.1:p.Asn2546IlefsTer11
ENST00000675894.1:n.3174del
ENST00000676074.1:c.6704del	ENSP00000502079.1:p.Asn2235IlefsTer11
ENST00000676181.1:n.5797del
ENST00000676190.1:n.1308del
ENST00000676363.1:n.12595del
ENST00000309041.11:c.6875del	ENSP00000308021.7:p.Asn2292IlefsTer11
ENST00000547691.6:c.4049del	ENSP00000446905.1:p.Asn1350IlefsTer11
ENST00000552810.5:c.6869del	ENSP00000448012.1:p.Asn2290IlefsTer11
NM_025114.3:c.6869del	NP_079390.3:p.Asn2290IlefsTer11
XM_011538756.1:c.7739del	XP_011537058.1:p.Asn2580IlefsTer11
XM_011538757.1:c.7739del	XP_011537059.1:p.Asn2580IlefsTer11
XM_011538758.1:c.7736del	XP_011537060.1:p.Asn2579IlefsTer11
XM_011538759.1:c.7730del	XP_011537061.1:p.Asn2577IlefsTer11
XM_011538760.1:c.7616del	XP_011537062.1:p.Asn2539IlefsTer11
XM_011538761.1:c.7574del	XP_011537063.1:p.Asn2525IlefsTer11
XM_011538762.1:c.6971del	XP_011537064.1:p.Asn2324IlefsTer11
XM_011538763.1:c.6878del	XP_011537065.1:p.Asn2293IlefsTer11
XM_011538766.1:c.6200del	XP_011537068.1:p.Asn2067IlefsTer11
XR_945163.1:n.853+402del
XM_011538756.3:c.7739del	XP_011537058.1:p.Asn2580IlefsTer11
XM_011538757.3:c.7739del	XP_011537059.1:p.Asn2580IlefsTer11
XM_011538758.3:c.7736del	XP_011537060.1:p.Asn2579IlefsTer11
XM_011538759.2:c.7730del	XP_011537061.1:p.Asn2577IlefsTer11
XM_011538760.2:c.7616del	XP_011537062.1:p.Asn2539IlefsTer11
XM_011538761.2:c.7574del	XP_011537063.1:p.Asn2525IlefsTer11
XM_011538762.3:c.6971del	XP_011537064.1:p.Asn2324IlefsTer11
XM_011538763.3:c.6878del	XP_011537065.1:p.Asn2293IlefsTer11
XM_011538766.3:c.6200del	XP_011537068.1:p.Asn2067IlefsTer11
XM_017019980.2:c.7607del	XP_016875469.1:p.Asn2536IlefsTer11
XM_017019981.2:c.7565del	XP_016875470.1:p.Asn2522IlefsTer11
XM_017019982.1:c.7739del	XP_016875471.1:p.Asn2580IlefsTer11
XM_017019983.2:c.6857del	XP_016875472.1:p.Asn2286IlefsTer11
XR_001748869.1:n.8074del
XR_001748870.2:n.7909del
NM_025114.4:c.6869del MANE Select	NP_079390.3:p.Asn2290IlefsTer11