Canonical Allele Identifier: CA2695199148

Gene: CEP290

Linked Data

• ClinVar Variation Id: 2680572
• ClinVar RCV Id: RCV003460395

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88089163_88089167del , CM000674.2:g.88089163_88089167del	GRCh38
NC_000012.11:g.88482940_88482944del , CM000674.1:g.88482940_88482944del	GRCh37
NC_000012.10:g.87007071_87007075del	NCBI36
NG_008417.1:g.58053_58057del
NG_008417.2:g.58053_58057del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.3897_3901del	ENSP00000308021.8:p.Lys1299AsnfsTer12
ENST00000547691.8:c.1181_1185del
ENST00000552810.6:c.3897_3901del MANE Select	ENSP00000448012.1:p.Lys1299AsnfsTer12
ENST00000672414.2:c.*2068_*2072del	ENSP00000500729.1:n.*2068_*2072del
ENST00000672647.1:n.2257_2261del
ENST00000673058.2:c.3897_3901del	ENSP00000500665.2:p.Lys1299AsnfsTer12
ENST00000674971.1:c.3897_3901del	ENSP00000502194.1:p.Lys1299AsnfsTer12
ENST00000675230.1:c.3876_3880del	ENSP00000502503.1:p.Lys1292AsnfsTer12
ENST00000675408.1:c.3897_3901del	ENSP00000502298.1:p.Lys1299AsnfsTer12
ENST00000675476.1:c.4758_4762del	ENSP00000502161.1:p.Lys1586AsnfsTer12
ENST00000675628.1:n.4124_4128del
ENST00000675794.1:c.*2068_*2072del	ENSP00000502841.1:n.*2068_*2072del
ENST00000675833.1:c.4665_4669del	ENSP00000502559.1:p.Lys1555AsnfsTer12
ENST00000676074.1:c.3897_3901del	ENSP00000502079.1:p.Lys1299AsnfsTer12
ENST00000676181.1:n.2825_2829del
ENST00000676363.1:n.9623_9627del
ENST00000676448.1:c.*1810_*1814del	ENSP00000501987.1:n.*1810_*1814del
ENST00000309041.11:c.3903_3907del	ENSP00000308021.7:p.Lys1301AsnfsTer12
ENST00000547691.6:c.1077_1081del	ENSP00000446905.1:p.Lys359AsnfsTer12
ENST00000552810.5:c.3897_3901del	ENSP00000448012.1:p.Lys1299AsnfsTer12
NM_025114.3:c.3897_3901del	NP_079390.3:p.Lys1299AsnfsTer12
XM_011538756.1:c.4758_4762del	XP_011537058.1:p.Lys1586AsnfsTer12
XM_011538757.1:c.4758_4762del	XP_011537059.1:p.Lys1586AsnfsTer12
XM_011538758.1:c.4758_4762del	XP_011537060.1:p.Lys1586AsnfsTer12
XM_011538759.1:c.4758_4762del	XP_011537061.1:p.Lys1586AsnfsTer12
XM_011538760.1:c.4758_4762del	XP_011537062.1:p.Lys1586AsnfsTer12
XM_011538761.1:c.4758_4762del	XP_011537063.1:p.Lys1586AsnfsTer12
XM_011538762.1:c.3990_3994del	XP_011537064.1:p.Lys1330AsnfsTer12
XM_011538763.1:c.3897_3901del	XP_011537065.1:p.Lys1299AsnfsTer12
XM_011538764.1:c.4758_4762del	XP_011537066.1:p.Lys1586AsnfsTer12
XM_011538765.1:c.4758_4762del	XP_011537067.1:p.Lys1586AsnfsTer12
XM_011538766.1:c.3219_3223del	XP_011537068.1:p.Lys1073AsnfsTer12
XM_011538756.3:c.4758_4762del	XP_011537058.1:p.Lys1586AsnfsTer12
XM_011538757.3:c.4758_4762del	XP_011537059.1:p.Lys1586AsnfsTer12
XM_011538758.3:c.4758_4762del	XP_011537060.1:p.Lys1586AsnfsTer12
XM_011538759.2:c.4758_4762del	XP_011537061.1:p.Lys1586AsnfsTer12
XM_011538760.2:c.4758_4762del	XP_011537062.1:p.Lys1586AsnfsTer12
XM_011538761.2:c.4758_4762del	XP_011537063.1:p.Lys1586AsnfsTer12
XM_011538762.3:c.3990_3994del	XP_011537064.1:p.Lys1330AsnfsTer12
XM_011538763.3:c.3897_3901del	XP_011537065.1:p.Lys1299AsnfsTer12
XM_011538764.3:c.4758_4762del	XP_011537066.1:p.Lys1586AsnfsTer12
XM_011538765.3:c.4758_4762del	XP_011537067.1:p.Lys1586AsnfsTer12
XM_011538766.3:c.3219_3223del	XP_011537068.1:p.Lys1073AsnfsTer12
XM_017019980.2:c.4758_4762del	XP_016875469.1:p.Lys1586AsnfsTer12
XM_017019981.2:c.4758_4762del	XP_016875470.1:p.Lys1586AsnfsTer12
XM_017019982.1:c.4758_4762del	XP_016875471.1:p.Lys1586AsnfsTer12
XM_017019983.2:c.3876_3880del	XP_016875472.1:p.Lys1292AsnfsTer12
XR_001748869.1:n.5102_5106del
XR_001748870.2:n.5102_5106del
NM_025114.4:c.3897_3901del MANE Select	NP_079390.3:p.Lys1299AsnfsTer12