Canonical Allele Identifier: CA2620107834

Gene: CEP290

Linked Data

• gnomAD v4: 12-88083198-AGGAACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88083202_88083207del , CM000674.2:g.88083202_88083207del	GRCh38
NC_000012.11:g.88476979_88476984del , CM000674.1:g.88476979_88476984del	GRCh37
NC_000012.10:g.87001110_87001115del	NCBI36
NG_008417.1:g.64013_64018del
NG_008417.2:g.64013_64018del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.4839_4844del	ENSP00000308021.8:p.Val1614_Pro1615del
ENST00000547691.8:c.2123_2128del
ENST00000552810.6:c.4839_4844del MANE Select	ENSP00000448012.1:p.Val1614_Pro1615del
ENST00000672414.2:c.*3010_*3015del	ENSP00000500729.1:n.*3010_*3015del
ENST00000672647.1:n.3199_3204del
ENST00000673058.2:c.4839_4844del	ENSP00000500665.2:p.Val1614_Pro1615del
ENST00000674971.1:c.4839_4844del	ENSP00000502194.1:p.Val1614_Pro1615del
ENST00000675230.1:c.4818_4823del	ENSP00000502503.1:p.Val1607_Pro1608del
ENST00000675408.1:c.4839_4844del	ENSP00000502298.1:p.Val1614_Pro1615del
ENST00000675476.1:c.5700_5705del	ENSP00000502161.1:p.Val1901_Pro1902del
ENST00000675628.1:n.5066_5071del
ENST00000675794.1:c.*3010_*3015del	ENSP00000502841.1:n.*3010_*3015del
ENST00000675833.1:c.5607_5612del	ENSP00000502559.1:p.Val1870_Pro1871del
ENST00000675894.1:n.1144_1149del
ENST00000676074.1:c.4839_4844del	ENSP00000502079.1:p.Val1614_Pro1615del
ENST00000676181.1:n.3767_3772del
ENST00000676363.1:n.10565_10570del
ENST00000676448.1:c.*2752_*2757del	ENSP00000501987.1:n.*2752_*2757del
ENST00000309041.11:c.4845_4850del	ENSP00000308021.7:p.Val1616_Pro1617del
ENST00000547691.6:c.2019_2024del	ENSP00000446905.1:p.Val674_Pro675del
ENST00000552810.5:c.4839_4844del	ENSP00000448012.1:p.Val1614_Pro1615del
NM_025114.3:c.4839_4844del	NP_079390.3:p.Val1614_Pro1615del
XM_011538756.1:c.5700_5705del	XP_011537058.1:p.Val1901_Pro1902del
XM_011538757.1:c.5700_5705del	XP_011537059.1:p.Val1901_Pro1902del
XM_011538758.1:c.5700_5705del	XP_011537060.1:p.Val1901_Pro1902del
XM_011538759.1:c.5700_5705del	XP_011537061.1:p.Val1901_Pro1902del
XM_011538760.1:c.5700_5705del	XP_011537062.1:p.Val1901_Pro1902del
XM_011538761.1:c.5700_5705del	XP_011537063.1:p.Val1901_Pro1902del
XM_011538762.1:c.4932_4937del	XP_011537064.1:p.Val1645_Pro1646del
XM_011538763.1:c.4839_4844del	XP_011537065.1:p.Val1614_Pro1615del
XM_011538764.1:c.5700_5705del	XP_011537066.1:p.Val1901_Pro1902del
XM_011538765.1:c.5700_5705del	XP_011537067.1:p.Val1901_Pro1902del
XM_011538766.1:c.4161_4166del	XP_011537068.1:p.Val1388_Pro1389del
XM_011538756.3:c.5700_5705del	XP_011537058.1:p.Val1901_Pro1902del
XM_011538757.3:c.5700_5705del	XP_011537059.1:p.Val1901_Pro1902del
XM_011538758.3:c.5700_5705del	XP_011537060.1:p.Val1901_Pro1902del
XM_011538759.2:c.5700_5705del	XP_011537061.1:p.Val1901_Pro1902del
XM_011538760.2:c.5700_5705del	XP_011537062.1:p.Val1901_Pro1902del
XM_011538761.2:c.5700_5705del	XP_011537063.1:p.Val1901_Pro1902del
XM_011538762.3:c.4932_4937del	XP_011537064.1:p.Val1645_Pro1646del
XM_011538763.3:c.4839_4844del	XP_011537065.1:p.Val1614_Pro1615del
XM_011538764.3:c.5700_5705del	XP_011537066.1:p.Val1901_Pro1902del
XM_011538765.3:c.5700_5705del	XP_011537067.1:p.Val1901_Pro1902del
XM_011538766.3:c.4161_4166del	XP_011537068.1:p.Val1388_Pro1389del
XM_017019980.2:c.5700_5705del	XP_016875469.1:p.Val1901_Pro1902del
XM_017019981.2:c.5700_5705del	XP_016875470.1:p.Val1901_Pro1902del
XM_017019982.1:c.5700_5705del	XP_016875471.1:p.Val1901_Pro1902del
XM_017019983.2:c.4818_4823del	XP_016875472.1:p.Val1607_Pro1608del
XR_001748869.1:n.6044_6049del
XR_001748870.2:n.6044_6049del
NM_025114.4:c.4839_4844del MANE Select	NP_079390.3:p.Val1614_Pro1615del