Canonical Allele Identifier: CA2831039003

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88083119_88083128del , CM000674.2:g.88083119_88083128del	GRCh38
NC_000012.11:g.88476896_88476905del , CM000674.1:g.88476896_88476905del	GRCh37
NC_000012.10:g.87001027_87001036del	NCBI36
NG_008417.1:g.64092_64101del
NG_008417.2:g.64092_64101del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.4918_4927del	ENSP00000308021.8:p.Leu1640AsnfsTer2
ENST00000547691.8:c.2202_2211del
ENST00000552810.6:c.4918_4927del MANE Select	ENSP00000448012.1:p.Leu1640AsnfsTer2
ENST00000672414.2:c.*3089_*3098del	ENSP00000500729.1:n.*3089_*3098del
ENST00000672647.1:n.3278_3287del
ENST00000673058.2:c.4918_4927del	ENSP00000500665.2:p.Leu1640AsnfsTer2
ENST00000674971.1:c.4918_4927del	ENSP00000502194.1:p.Leu1640AsnfsTer2
ENST00000675230.1:c.4897_4906del	ENSP00000502503.1:p.Leu1633AsnfsTer2
ENST00000675408.1:c.4918_4927del	ENSP00000502298.1:p.Leu1640AsnfsTer2
ENST00000675476.1:c.5779_5788del	ENSP00000502161.1:p.Leu1927AsnfsTer2
ENST00000675628.1:n.5145_5154del
ENST00000675794.1:c.*3089_*3098del	ENSP00000502841.1:n.*3089_*3098del
ENST00000675833.1:c.5686_5695del	ENSP00000502559.1:p.Leu1896AsnfsTer2
ENST00000675894.1:n.1223_1232del
ENST00000676074.1:c.4918_4927del	ENSP00000502079.1:p.Leu1640AsnfsTer2
ENST00000676181.1:n.3846_3855del
ENST00000676363.1:n.10644_10653del
ENST00000676448.1:c.*2831_*2840del	ENSP00000501987.1:n.*2831_*2840del
ENST00000309041.11:c.4924_4933del	ENSP00000308021.7:p.Leu1642AsnfsTer2
ENST00000547691.6:c.2098_2107del	ENSP00000446905.1:p.Leu700AsnfsTer2
ENST00000552810.5:c.4918_4927del	ENSP00000448012.1:p.Leu1640AsnfsTer2
NM_025114.3:c.4918_4927del	NP_079390.3:p.Leu1640AsnfsTer2
XM_011538756.1:c.5779_5788del	XP_011537058.1:p.Leu1927AsnfsTer2
XM_011538757.1:c.5779_5788del	XP_011537059.1:p.Leu1927AsnfsTer2
XM_011538758.1:c.5779_5788del	XP_011537060.1:p.Leu1927AsnfsTer2
XM_011538759.1:c.5779_5788del	XP_011537061.1:p.Leu1927AsnfsTer2
XM_011538760.1:c.5779_5788del	XP_011537062.1:p.Leu1927AsnfsTer2
XM_011538761.1:c.5779_5788del	XP_011537063.1:p.Leu1927AsnfsTer2
XM_011538762.1:c.5011_5020del	XP_011537064.1:p.Leu1671AsnfsTer2
XM_011538763.1:c.4918_4927del	XP_011537065.1:p.Leu1640AsnfsTer2
XM_011538764.1:c.5779_5788del	XP_011537066.1:p.Leu1927AsnfsTer2
XM_011538765.1:c.5779_5788del	XP_011537067.1:p.Leu1927AsnfsTer2
XM_011538766.1:c.4240_4249del	XP_011537068.1:p.Leu1414AsnfsTer2
XM_011538756.3:c.5779_5788del	XP_011537058.1:p.Leu1927AsnfsTer2
XM_011538757.3:c.5779_5788del	XP_011537059.1:p.Leu1927AsnfsTer2
XM_011538758.3:c.5779_5788del	XP_011537060.1:p.Leu1927AsnfsTer2
XM_011538759.2:c.5779_5788del	XP_011537061.1:p.Leu1927AsnfsTer2
XM_011538760.2:c.5779_5788del	XP_011537062.1:p.Leu1927AsnfsTer2
XM_011538761.2:c.5779_5788del	XP_011537063.1:p.Leu1927AsnfsTer2
XM_011538762.3:c.5011_5020del	XP_011537064.1:p.Leu1671AsnfsTer2
XM_011538763.3:c.4918_4927del	XP_011537065.1:p.Leu1640AsnfsTer2
XM_011538764.3:c.5779_5788del	XP_011537066.1:p.Leu1927AsnfsTer2
XM_011538765.3:c.5779_5788del	XP_011537067.1:p.Leu1927AsnfsTer2
XM_011538766.3:c.4240_4249del	XP_011537068.1:p.Leu1414AsnfsTer2
XM_017019980.2:c.5779_5788del	XP_016875469.1:p.Leu1927AsnfsTer2
XM_017019981.2:c.5779_5788del	XP_016875470.1:p.Leu1927AsnfsTer2
XM_017019982.1:c.5779_5788del	XP_016875471.1:p.Leu1927AsnfsTer2
XM_017019983.2:c.4897_4906del	XP_016875472.1:p.Leu1633AsnfsTer2
XR_001748869.1:n.6123_6132del
XR_001748870.2:n.6123_6132del
NM_025114.4:c.4918_4927del MANE Select	NP_079390.3:p.Leu1640AsnfsTer2