Canonical Allele Identifier: CA2620107697

Gene: CEP290

Linked Data

• gnomAD v4: 12-88083151-GCTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88083154_88083156del , CM000674.2:g.88083154_88083156del	GRCh38
NC_000012.11:g.88476931_88476933del , CM000674.1:g.88476931_88476933del	GRCh37
NC_000012.10:g.87001062_87001064del	NCBI36
NG_008417.1:g.64063_64065del
NG_008417.2:g.64063_64065del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.4889_4891del	ENSP00000308021.8:p.Val1630del
ENST00000547691.8:c.2173_2175del
ENST00000552810.6:c.4889_4891del MANE Select	ENSP00000448012.1:p.Val1630del
ENST00000672414.2:c.*3060_*3062del	ENSP00000500729.1:n.*3060_*3062del
ENST00000672647.1:n.3249_3251del
ENST00000673058.2:c.4889_4891del	ENSP00000500665.2:p.Val1630del
ENST00000674971.1:c.4889_4891del	ENSP00000502194.1:p.Val1630del
ENST00000675230.1:c.4868_4870del	ENSP00000502503.1:p.Val1623del
ENST00000675408.1:c.4889_4891del	ENSP00000502298.1:p.Val1630del
ENST00000675476.1:c.5750_5752del	ENSP00000502161.1:p.Val1917del
ENST00000675628.1:n.5116_5118del
ENST00000675794.1:c.*3060_*3062del	ENSP00000502841.1:n.*3060_*3062del
ENST00000675833.1:c.5657_5659del	ENSP00000502559.1:p.Val1886del
ENST00000675894.1:n.1194_1196del
ENST00000676074.1:c.4889_4891del	ENSP00000502079.1:p.Val1630del
ENST00000676181.1:n.3817_3819del
ENST00000676363.1:n.10615_10617del
ENST00000676448.1:c.*2802_*2804del	ENSP00000501987.1:n.*2802_*2804del
ENST00000309041.11:c.4895_4897del	ENSP00000308021.7:p.Val1632del
ENST00000547691.6:c.2069_2071del	ENSP00000446905.1:p.Val690del
ENST00000552810.5:c.4889_4891del	ENSP00000448012.1:p.Val1630del
NM_025114.3:c.4889_4891del	NP_079390.3:p.Val1630del
XM_011538756.1:c.5750_5752del	XP_011537058.1:p.Val1917del
XM_011538757.1:c.5750_5752del	XP_011537059.1:p.Val1917del
XM_011538758.1:c.5750_5752del	XP_011537060.1:p.Val1917del
XM_011538759.1:c.5750_5752del	XP_011537061.1:p.Val1917del
XM_011538760.1:c.5750_5752del	XP_011537062.1:p.Val1917del
XM_011538761.1:c.5750_5752del	XP_011537063.1:p.Val1917del
XM_011538762.1:c.4982_4984del	XP_011537064.1:p.Val1661del
XM_011538763.1:c.4889_4891del	XP_011537065.1:p.Val1630del
XM_011538764.1:c.5750_5752del	XP_011537066.1:p.Val1917del
XM_011538765.1:c.5750_5752del	XP_011537067.1:p.Val1917del
XM_011538766.1:c.4211_4213del	XP_011537068.1:p.Val1404del
XM_011538756.3:c.5750_5752del	XP_011537058.1:p.Val1917del
XM_011538757.3:c.5750_5752del	XP_011537059.1:p.Val1917del
XM_011538758.3:c.5750_5752del	XP_011537060.1:p.Val1917del
XM_011538759.2:c.5750_5752del	XP_011537061.1:p.Val1917del
XM_011538760.2:c.5750_5752del	XP_011537062.1:p.Val1917del
XM_011538761.2:c.5750_5752del	XP_011537063.1:p.Val1917del
XM_011538762.3:c.4982_4984del	XP_011537064.1:p.Val1661del
XM_011538763.3:c.4889_4891del	XP_011537065.1:p.Val1630del
XM_011538764.3:c.5750_5752del	XP_011537066.1:p.Val1917del
XM_011538765.3:c.5750_5752del	XP_011537067.1:p.Val1917del
XM_011538766.3:c.4211_4213del	XP_011537068.1:p.Val1404del
XM_017019980.2:c.5750_5752del	XP_016875469.1:p.Val1917del
XM_017019981.2:c.5750_5752del	XP_016875470.1:p.Val1917del
XM_017019982.1:c.5750_5752del	XP_016875471.1:p.Val1917del
XM_017019983.2:c.4868_4870del	XP_016875472.1:p.Val1623del
XR_001748869.1:n.6094_6096del
XR_001748870.2:n.6094_6096del
NM_025114.4:c.4889_4891del MANE Select	NP_079390.3:p.Val1630del