Canonical Allele Identifier: CA2052904444

Gene: CEP290

Linked Data

• dbSNP Id: rs2036319462

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88083188_88083189insAAAATAT , CM000674.2:g.88083188_88083189insAAAATAT	GRCh38
NC_000012.11:g.88476965_88476966insAAAATAT , CM000674.1:g.88476965_88476966insAAAATAT	GRCh37
NC_000012.10:g.87001096_87001097insAAAATAT	NCBI36
NG_008417.1:g.64028_64029insATATTTT
NG_008417.2:g.64028_64029insATATTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.4854_4855insATATTTT	ENSP00000308021.8:p.His1619IlefsTer9
ENST00000547691.8:c.2138_2139insATATTTT
ENST00000552810.6:c.4854_4855insATATTTT MANE Select	ENSP00000448012.1:p.His1619IlefsTer9
ENST00000672414.2:c.*3025_*3026insATATTTT	ENSP00000500729.1:n.*3025_*3026insATATTTT
ENST00000672647.1:n.3214_3215insATATTTT
ENST00000673058.2:c.4854_4855insATATTTT	ENSP00000500665.2:p.His1619IlefsTer9
ENST00000674971.1:c.4854_4855insATATTTT	ENSP00000502194.1:p.His1619IlefsTer9
ENST00000675230.1:c.4833_4834insATATTTT	ENSP00000502503.1:p.His1612IlefsTer9
ENST00000675408.1:c.4854_4855insATATTTT	ENSP00000502298.1:p.His1619IlefsTer9
ENST00000675476.1:c.5715_5716insATATTTT	ENSP00000502161.1:p.His1906IlefsTer9
ENST00000675628.1:n.5081_5082insATATTTT
ENST00000675794.1:c.*3025_*3026insATATTTT	ENSP00000502841.1:n.*3025_*3026insATATTTT
ENST00000675833.1:c.5622_5623insATATTTT	ENSP00000502559.1:p.His1875IlefsTer9
ENST00000675894.1:n.1159_1160insATATTTT
ENST00000676074.1:c.4854_4855insATATTTT	ENSP00000502079.1:p.His1619IlefsTer9
ENST00000676181.1:n.3782_3783insATATTTT
ENST00000676363.1:n.10580_10581insATATTTT
ENST00000676448.1:c.*2767_*2768insATATTTT	ENSP00000501987.1:n.*2767_*2768insATATTTT
ENST00000309041.11:c.4860_4861insATATTTT	ENSP00000308021.7:p.His1621IlefsTer9
ENST00000547691.6:c.2034_2035insATATTTT	ENSP00000446905.1:p.His679IlefsTer9
ENST00000552810.5:c.4854_4855insATATTTT	ENSP00000448012.1:p.His1619IlefsTer9
NM_025114.3:c.4854_4855insATATTTT	NP_079390.3:p.His1619IlefsTer9
XM_011538756.1:c.5715_5716insATATTTT	XP_011537058.1:p.His1906IlefsTer9
XM_011538757.1:c.5715_5716insATATTTT	XP_011537059.1:p.His1906IlefsTer9
XM_011538758.1:c.5715_5716insATATTTT	XP_011537060.1:p.His1906IlefsTer9
XM_011538759.1:c.5715_5716insATATTTT	XP_011537061.1:p.His1906IlefsTer9
XM_011538760.1:c.5715_5716insATATTTT	XP_011537062.1:p.His1906IlefsTer9
XM_011538761.1:c.5715_5716insATATTTT	XP_011537063.1:p.His1906IlefsTer9
XM_011538762.1:c.4947_4948insATATTTT	XP_011537064.1:p.His1650IlefsTer9
XM_011538763.1:c.4854_4855insATATTTT	XP_011537065.1:p.His1619IlefsTer9
XM_011538764.1:c.5715_5716insATATTTT	XP_011537066.1:p.His1906IlefsTer9
XM_011538765.1:c.5715_5716insATATTTT	XP_011537067.1:p.His1906IlefsTer9
XM_011538766.1:c.4176_4177insATATTTT	XP_011537068.1:p.His1393IlefsTer9
XM_011538756.3:c.5715_5716insATATTTT	XP_011537058.1:p.His1906IlefsTer9
XM_011538757.3:c.5715_5716insATATTTT	XP_011537059.1:p.His1906IlefsTer9
XM_011538758.3:c.5715_5716insATATTTT	XP_011537060.1:p.His1906IlefsTer9
XM_011538759.2:c.5715_5716insATATTTT	XP_011537061.1:p.His1906IlefsTer9
XM_011538760.2:c.5715_5716insATATTTT	XP_011537062.1:p.His1906IlefsTer9
XM_011538761.2:c.5715_5716insATATTTT	XP_011537063.1:p.His1906IlefsTer9
XM_011538762.3:c.4947_4948insATATTTT	XP_011537064.1:p.His1650IlefsTer9
XM_011538763.3:c.4854_4855insATATTTT	XP_011537065.1:p.His1619IlefsTer9
XM_011538764.3:c.5715_5716insATATTTT	XP_011537066.1:p.His1906IlefsTer9
XM_011538765.3:c.5715_5716insATATTTT	XP_011537067.1:p.His1906IlefsTer9
XM_011538766.3:c.4176_4177insATATTTT	XP_011537068.1:p.His1393IlefsTer9
XM_017019980.2:c.5715_5716insATATTTT	XP_016875469.1:p.His1906IlefsTer9
XM_017019981.2:c.5715_5716insATATTTT	XP_016875470.1:p.His1906IlefsTer9
XM_017019982.1:c.5715_5716insATATTTT	XP_016875471.1:p.His1906IlefsTer9
XM_017019983.2:c.4833_4834insATATTTT	XP_016875472.1:p.His1612IlefsTer9
XR_001748869.1:n.6059_6060insATATTTT
XR_001748870.2:n.6059_6060insATATTTT
NM_025114.4:c.4854_4855insATATTTT MANE Select	NP_079390.3:p.His1619IlefsTer9