Canonical Allele Identifier: CA385977135

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88058846A>G , CM000674.2:g.88058846A>G	GRCh38
NC_000012.11:g.88452623A>G , CM000674.1:g.88452623A>G	GRCh37
NC_000012.10:g.86976754A>G	NCBI36
NG_008417.1:g.88371T>C
NG_008417.2:g.88371T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_025114.4:c.6818+2T>C MANE Select	NP_079390.3:n.6818+2T>C
ENST00000552810.6:c.6818+2T>C MANE Select	ENSP00000448012.1:n.6818+2T>C
NM_025114.3:c.6818+2T>C	NP_079390.3:n.6818+2T>C
ENST00000309041.11:c.6824+2T>C	ENSP00000308021.7:n.6824+2T>C
ENST00000309041.12:c.6827+2T>C	ENSP00000308021.8:n.6827+2T>C
ENST00000547691.6:c.3998+2T>C	ENSP00000446905.1:n.3998+2T>C
ENST00000547691.8:c.3929+1052T>C
ENST00000552810.5:c.6818+2T>C	ENSP00000448012.1:n.6818+2T>C
ENST00000671777.2:n.597+2T>C
ENST00000672414.2:c.*4824+2T>C	ENSP00000500729.1:n.*4824+2T>C
ENST00000672647.1:n.5178+2T>C
ENST00000673058.2:c.6695+2T>C	ENSP00000500665.2:n.6695+2T>C
ENST00000674712.1:n.345+2T>C
ENST00000674889.1:n.3771+2T>C
ENST00000674971.1:c.6818+2T>C	ENSP00000502194.1:n.6818+2T>C
ENST00000675230.1:c.6797+2T>C	ENSP00000502503.1:n.6797+2T>C
ENST00000675408.1:c.6653+2T>C	ENSP00000502298.1:n.6653+2T>C
ENST00000675476.1:c.7679+2T>C	ENSP00000502161.1:n.7679+2T>C
ENST00000675628.1:n.7045+2T>C
ENST00000675794.1:c.*4989+2T>C	ENSP00000502841.1:n.*4989+2T>C
ENST00000675833.1:c.7586+2T>C	ENSP00000502559.1:n.7586+2T>C
ENST00000675894.1:n.3123+2T>C
ENST00000676074.1:c.6653+2T>C	ENSP00000502079.1:n.6653+2T>C
ENST00000676181.1:n.5746+2T>C
ENST00000676190.1:n.1257+2T>C
ENST00000676363.1:n.12544+2T>C
XM_011538756.1:c.7688+2T>C	XP_011537058.1:n.7688+2T>C
XM_011538756.3:c.7688+2T>C	XP_011537058.1:n.7688+2T>C
XM_011538757.1:c.7688+2T>C	XP_011537059.1:n.7688+2T>C
XM_011538757.3:c.7688+2T>C	XP_011537059.1:n.7688+2T>C
XM_011538758.1:c.7685+2T>C	XP_011537060.1:n.7685+2T>C
XM_011538758.3:c.7685+2T>C	XP_011537060.1:n.7685+2T>C
XM_011538759.1:c.7679+2T>C	XP_011537061.1:n.7679+2T>C
XM_011538759.2:c.7679+2T>C	XP_011537061.1:n.7679+2T>C
XM_011538760.1:c.7565+2T>C	XP_011537062.1:n.7565+2T>C
XM_011538760.2:c.7565+2T>C	XP_011537062.1:n.7565+2T>C
XM_011538761.1:c.7523+2T>C	XP_011537063.1:n.7523+2T>C
XM_011538761.2:c.7523+2T>C	XP_011537063.1:n.7523+2T>C
XM_011538762.1:c.6920+2T>C	XP_011537064.1:n.6920+2T>C
XM_011538762.3:c.6920+2T>C	XP_011537064.1:n.6920+2T>C
XM_011538763.1:c.6827+2T>C	XP_011537065.1:n.6827+2T>C
XM_011538763.3:c.6827+2T>C	XP_011537065.1:n.6827+2T>C
XM_011538766.1:c.6149+2T>C	XP_011537068.1:n.6149+2T>C
XM_011538766.3:c.6149+2T>C	XP_011537068.1:n.6149+2T>C
XM_017019980.2:c.7556+2T>C	XP_016875469.1:n.7556+2T>C
XM_017019981.2:c.7514+2T>C	XP_016875470.1:n.7514+2T>C
XM_017019982.1:c.7688+2T>C	XP_016875471.1:n.7688+2T>C
XM_017019983.2:c.6806+2T>C	XP_016875472.1:n.6806+2T>C
XR_001748869.1:n.8023+2T>C
XR_001748870.2:n.7858+2T>C
XR_945163.1:n.967+1826A>G