Canonical Allele Identifier: CA2620107596

Gene: CEP290

Linked Data

• gnomAD v4: 12-88083103-ACTTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88083108_88083111del , CM000674.2:g.88083108_88083111del	GRCh38
NC_000012.11:g.88476885_88476888del , CM000674.1:g.88476885_88476888del	GRCh37
NC_000012.10:g.87001016_87001019del	NCBI36
NG_008417.1:g.64110_64113del
NG_008417.2:g.64110_64113del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.4936_4939del	ENSP00000308021.8:p.Lys1646TyrfsTer14
ENST00000547691.8:c.2220_2223del
ENST00000552810.6:c.4936_4939del MANE Select	ENSP00000448012.1:p.Lys1646TyrfsTer14
ENST00000672414.2:c.*3107_*3110del	ENSP00000500729.1:n.*3107_*3110del
ENST00000672647.1:n.3296_3299del
ENST00000673058.2:c.4936_4939del	ENSP00000500665.2:p.Lys1646TyrfsTer14
ENST00000674971.1:c.4936_4939del	ENSP00000502194.1:p.Lys1646TyrfsTer14
ENST00000675230.1:c.4915_4918del	ENSP00000502503.1:p.Lys1639TyrfsTer14
ENST00000675408.1:c.4936_4939del	ENSP00000502298.1:p.Lys1646TyrfsTer14
ENST00000675476.1:c.5797_5800del	ENSP00000502161.1:p.Lys1933TyrfsTer14
ENST00000675628.1:n.5163_5166del
ENST00000675794.1:c.*3107_*3110del	ENSP00000502841.1:n.*3107_*3110del
ENST00000675833.1:c.5704_5707del	ENSP00000502559.1:p.Lys1902TyrfsTer14
ENST00000675894.1:n.1241_1244del
ENST00000676074.1:c.4936_4939del	ENSP00000502079.1:p.Lys1646TyrfsTer14
ENST00000676181.1:n.3864_3867del
ENST00000676363.1:n.10662_10665del
ENST00000676448.1:c.*2849_*2852del	ENSP00000501987.1:n.*2849_*2852del
ENST00000309041.11:c.4942_4945del	ENSP00000308021.7:p.Lys1648TyrfsTer14
ENST00000547691.6:c.2116_2119del	ENSP00000446905.1:p.Lys706TyrfsTer14
ENST00000552810.5:c.4936_4939del	ENSP00000448012.1:p.Lys1646TyrfsTer14
NM_025114.3:c.4936_4939del	NP_079390.3:p.Lys1646TyrfsTer14
XM_011538756.1:c.5797_5800del	XP_011537058.1:p.Lys1933TyrfsTer14
XM_011538757.1:c.5797_5800del	XP_011537059.1:p.Lys1933TyrfsTer14
XM_011538758.1:c.5797_5800del	XP_011537060.1:p.Lys1933TyrfsTer14
XM_011538759.1:c.5797_5800del	XP_011537061.1:p.Lys1933TyrfsTer14
XM_011538760.1:c.5797_5800del	XP_011537062.1:p.Lys1933TyrfsTer14
XM_011538761.1:c.5797_5800del	XP_011537063.1:p.Lys1933TyrfsTer14
XM_011538762.1:c.5029_5032del	XP_011537064.1:p.Lys1677TyrfsTer14
XM_011538763.1:c.4936_4939del	XP_011537065.1:p.Lys1646TyrfsTer14
XM_011538764.1:c.5797_5800del	XP_011537066.1:p.Lys1933TyrfsTer14
XM_011538765.1:c.5797_5800del	XP_011537067.1:p.Lys1933TyrfsTer14
XM_011538766.1:c.4258_4261del	XP_011537068.1:p.Lys1420TyrfsTer14
XM_011538756.3:c.5797_5800del	XP_011537058.1:p.Lys1933TyrfsTer14
XM_011538757.3:c.5797_5800del	XP_011537059.1:p.Lys1933TyrfsTer14
XM_011538758.3:c.5797_5800del	XP_011537060.1:p.Lys1933TyrfsTer14
XM_011538759.2:c.5797_5800del	XP_011537061.1:p.Lys1933TyrfsTer14
XM_011538760.2:c.5797_5800del	XP_011537062.1:p.Lys1933TyrfsTer14
XM_011538761.2:c.5797_5800del	XP_011537063.1:p.Lys1933TyrfsTer14
XM_011538762.3:c.5029_5032del	XP_011537064.1:p.Lys1677TyrfsTer14
XM_011538763.3:c.4936_4939del	XP_011537065.1:p.Lys1646TyrfsTer14
XM_011538764.3:c.5797_5800del	XP_011537066.1:p.Lys1933TyrfsTer14
XM_011538765.3:c.5797_5800del	XP_011537067.1:p.Lys1933TyrfsTer14
XM_011538766.3:c.4258_4261del	XP_011537068.1:p.Lys1420TyrfsTer14
XM_017019980.2:c.5797_5800del	XP_016875469.1:p.Lys1933TyrfsTer14
XM_017019981.2:c.5797_5800del	XP_016875470.1:p.Lys1933TyrfsTer14
XM_017019982.1:c.5797_5800del	XP_016875471.1:p.Lys1933TyrfsTer14
XM_017019983.2:c.4915_4918del	XP_016875472.1:p.Lys1639TyrfsTer14
XR_001748869.1:n.6141_6144del
XR_001748870.2:n.6141_6144del
NM_025114.4:c.4936_4939del MANE Select	NP_079390.3:p.Lys1646TyrfsTer14