Canonical Allele Identifier: CA150904

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.88093911dup , CM000674.2:g.88093911dup	GRCh38
NC_000012.11:g.88487688dup , CM000674.1:g.88487688dup	GRCh37
NC_000012.10:g.87011819dup	NCBI36
NG_008417.1:g.53313dup
NG_008417.2:g.53313dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.3175dup	ENSP00000308021.8:p.Ile1059AsnfsTer11
ENST00000547691.8:c.459dup
ENST00000552810.6:c.3175dup MANE Select	ENSP00000448012.1:p.Ile1059AsnfsTer11
ENST00000672414.2:c.*1346dup	ENSP00000500729.1:n.*1346dup
ENST00000672647.1:n.1535dup
ENST00000673058.2:c.3175dup	ENSP00000500665.2:p.Ile1059AsnfsTer11
ENST00000674971.1:c.3175dup	ENSP00000502194.1:p.Ile1059AsnfsTer11
ENST00000675089.1:c.286+2984dup	ENSP00000501582.1:n.286+2984dup
ENST00000675230.1:c.3154dup	ENSP00000502503.1:p.Ile1052AsnfsTer11
ENST00000675408.1:c.3175dup	ENSP00000502298.1:p.Ile1059AsnfsTer11
ENST00000675476.1:c.4036dup	ENSP00000502161.1:p.Ile1346AsnfsTer11
ENST00000675628.1:n.3402dup
ENST00000675794.1:c.*1346dup	ENSP00000502841.1:n.*1346dup
ENST00000675833.1:c.3943dup	ENSP00000502559.1:p.Ile1315AsnfsTer11
ENST00000676074.1:c.3175dup	ENSP00000502079.1:p.Ile1059AsnfsTer11
ENST00000676181.1:n.863dup
ENST00000676363.1:n.8901dup
ENST00000676448.1:c.*1088dup	ENSP00000501987.1:n.*1088dup
ENST00000309041.11:c.3181dup	ENSP00000308021.7:p.Ile1061AsnfsTer11
ENST00000547691.6:c.355dup	ENSP00000446905.1:p.Ile119AsnfsTer11
ENST00000552810.5:c.3175dup	ENSP00000448012.1:p.Ile1059AsnfsTer11
ENST00000604024.5:c.2434dup	ENSP00000473863.1:p.Ile812AsnfsTer11
NM_025114.3:c.3175dup	NP_079390.3:p.Ile1059AsnfsTer11
XM_011538756.1:c.4036dup	XP_011537058.1:p.Ile1346AsnfsTer11
XM_011538757.1:c.4036dup	XP_011537059.1:p.Ile1346AsnfsTer11
XM_011538758.1:c.4036dup	XP_011537060.1:p.Ile1346AsnfsTer11
XM_011538759.1:c.4036dup	XP_011537061.1:p.Ile1346AsnfsTer11
XM_011538760.1:c.4036dup	XP_011537062.1:p.Ile1346AsnfsTer11
XM_011538761.1:c.4036dup	XP_011537063.1:p.Ile1346AsnfsTer11
XM_011538762.1:c.3268dup	XP_011537064.1:p.Ile1090AsnfsTer11
XM_011538763.1:c.3175dup	XP_011537065.1:p.Ile1059AsnfsTer11
XM_011538764.1:c.4036dup	XP_011537066.1:p.Ile1346AsnfsTer11
XM_011538765.1:c.4036dup	XP_011537067.1:p.Ile1346AsnfsTer11
XM_011538766.1:c.2497dup	XP_011537068.1:p.Ile833AsnfsTer11
XM_011538756.3:c.4036dup	XP_011537058.1:p.Ile1346AsnfsTer11
XM_011538757.3:c.4036dup	XP_011537059.1:p.Ile1346AsnfsTer11
XM_011538758.3:c.4036dup	XP_011537060.1:p.Ile1346AsnfsTer11
XM_011538759.2:c.4036dup	XP_011537061.1:p.Ile1346AsnfsTer11
XM_011538760.2:c.4036dup	XP_011537062.1:p.Ile1346AsnfsTer11
XM_011538761.2:c.4036dup	XP_011537063.1:p.Ile1346AsnfsTer11
XM_011538762.3:c.3268dup	XP_011537064.1:p.Ile1090AsnfsTer11
XM_011538763.3:c.3175dup	XP_011537065.1:p.Ile1059AsnfsTer11
XM_011538764.3:c.4036dup	XP_011537066.1:p.Ile1346AsnfsTer11
XM_011538765.3:c.4036dup	XP_011537067.1:p.Ile1346AsnfsTer11
XM_011538766.3:c.2497dup	XP_011537068.1:p.Ile833AsnfsTer11
XM_017019980.2:c.4036dup	XP_016875469.1:p.Ile1346AsnfsTer11
XM_017019981.2:c.4036dup	XP_016875470.1:p.Ile1346AsnfsTer11
XM_017019982.1:c.4036dup	XP_016875471.1:p.Ile1346AsnfsTer11
XM_017019983.2:c.3154dup	XP_016875472.1:p.Ile1052AsnfsTer11
XR_001748869.1:n.4380dup
XR_001748870.2:n.4380dup
NM_025114.4:c.3175dup MANE Select	NP_079390.3:p.Ile1059AsnfsTer11