Canonical Allele Identifier: CA2740092510

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88117055_88117070del , CM000674.2:g.88117055_88117070del	GRCh38
NC_000012.11:g.88510832_88510847del , CM000674.1:g.88510832_88510847del	GRCh37
NC_000012.10:g.87034963_87034978del	NCBI36
NG_008417.1:g.30150_30165del
NG_008417.2:g.30150_30165del

Transcript Alleles

HGVS	Amino-acid Change
NM_025114.4:c.1790_1805del MANE Select	NP_079390.3:p.Leu597Ter
ENST00000552810.6:c.1790_1805del MANE Select	ENSP00000448012.1:p.Leu597Ter
NM_025114.3:c.1790_1805del	NP_079390.3:p.Leu597Ter
ENST00000309041.11:c.1796_1811del	ENSP00000308021.7:p.Leu599Ter
ENST00000309041.12:c.1790_1805del	ENSP00000308021.8:p.Leu597Ter
ENST00000397838.7:c.1796_1811del	ENSP00000380938.4:p.Leu599Ter
ENST00000397838.8:c.1736_1751del	ENSP00000380938.5:p.Leu579Ter
ENST00000547926.6:c.1688_1703del	ENSP00000448573.2:p.Leu563Ter
ENST00000547926.7:c.1790_1805del	ENSP00000448573.3:p.Leu597Ter
ENST00000552810.5:c.1790_1805del	ENSP00000448012.1:p.Leu597Ter
ENST00000604024.5:c.956_971del	ENSP00000473863.1:p.Leu319Ter
ENST00000671822.2:n.3380+1416_3380+1431del
ENST00000672414.2:c.1711+1416_1711+1431del	ENSP00000500729.1:n.1711+1416_1711+1431del
ENST00000673058.2:c.1790_1805del	ENSP00000500665.2:p.Leu597Ter
ENST00000674971.1:c.1790_1805del	ENSP00000502194.1:p.Leu597Ter
ENST00000675230.1:c.1769_1784del	ENSP00000502503.1:p.Leu590Ter
ENST00000675408.1:c.1790_1805del	ENSP00000502298.1:p.Leu597Ter
ENST00000675476.1:c.1790_1805del	ENSP00000502161.1:p.Leu597Ter
ENST00000675559.1:c.*336_*351del	ENSP00000502163.1:n.*336_*351del
ENST00000675628.1:n.2017_2032del
ENST00000675794.1:c.1711+1416_1711+1431del	ENSP00000502841.1:n.1711+1416_1711+1431del
ENST00000675833.1:c.1790_1805del	ENSP00000502559.1:p.Leu597Ter
ENST00000676074.1:c.1790_1805del	ENSP00000502079.1:p.Leu597Ter
ENST00000676351.1:c.*2745_*2760del	ENSP00000502046.1:n.*2745_*2760del
ENST00000676363.1:n.3853_3868del
ENST00000676448.1:c.1790_1805del	ENSP00000501987.1:p.Leu597Ter
XM_011538756.1:c.1790_1805del	XP_011537058.1:p.Leu597Ter
XM_011538756.3:c.1790_1805del	XP_011537058.1:p.Leu597Ter
XM_011538757.1:c.1790_1805del	XP_011537059.1:p.Leu597Ter
XM_011538757.3:c.1790_1805del	XP_011537059.1:p.Leu597Ter
XM_011538758.1:c.1790_1805del	XP_011537060.1:p.Leu597Ter
XM_011538758.3:c.1790_1805del	XP_011537060.1:p.Leu597Ter
XM_011538759.1:c.1790_1805del	XP_011537061.1:p.Leu597Ter
XM_011538759.2:c.1790_1805del	XP_011537061.1:p.Leu597Ter
XM_011538760.1:c.1790_1805del	XP_011537062.1:p.Leu597Ter
XM_011538760.2:c.1790_1805del	XP_011537062.1:p.Leu597Ter
XM_011538761.1:c.1790_1805del	XP_011537063.1:p.Leu597Ter
XM_011538761.2:c.1790_1805del	XP_011537063.1:p.Leu597Ter
XM_011538762.1:c.1790_1805del	XP_011537064.1:p.Leu597Ter
XM_011538762.3:c.1790_1805del	XP_011537064.1:p.Leu597Ter
XM_011538763.1:c.1790_1805del	XP_011537065.1:p.Leu597Ter
XM_011538763.3:c.1790_1805del	XP_011537065.1:p.Leu597Ter
XM_011538764.1:c.1790_1805del	XP_011537066.1:p.Leu597Ter
XM_011538764.3:c.1790_1805del	XP_011537066.1:p.Leu597Ter
XM_011538765.1:c.1790_1805del	XP_011537067.1:p.Leu597Ter
XM_011538765.3:c.1790_1805del	XP_011537067.1:p.Leu597Ter
XM_011538766.1:c.251_266del	XP_011537068.1:p.Leu84Ter
XM_011538766.3:c.251_266del	XP_011537068.1:p.Leu84Ter
XM_017019980.2:c.1790_1805del	XP_016875469.1:p.Leu597Ter
XM_017019981.2:c.1790_1805del	XP_016875470.1:p.Leu597Ter
XM_017019982.1:c.1790_1805del	XP_016875471.1:p.Leu597Ter
XM_017019983.2:c.1769_1784del	XP_016875472.1:p.Leu590Ter
XR_001748869.1:n.2134_2149del
XR_001748870.2:n.2134_2149del