Canonical Allele Identifier: CA6711272
Gene: CEP290 HGNC NCBI
RLIG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88049217_88049219del , CM000674.2:g.88049217_88049219del GRCh38
NC_000012.11:g.88442994_88442996del , CM000674.1:g.88442994_88442996del GRCh37
NC_000012.10:g.86967125_86967127del NCBI36
NG_008417.1:g.98004_98006del
NG_008417.2:g.98004_98006del

Transcript Alleles

HGVS Amino-acid Change
ENST00000309041.12:c.7420_7422del (CEP290) ENSP00000308021.8:p.Glu2474del
ENST00000356891.4:c.*795_*797del (RLIG1) MANE Select ENSP00000349358.3:n.*795_*797del
ENST00000547691.8:c.4380_4382del (CEP290)
ENST00000552810.6:c.7411_7413del (CEP290) MANE Select ENSP00000448012.1:p.Glu2471del
ENST00000671777.2:n.1190_1192del (CEP290)
ENST00000672414.2:c.*5417_*5419del (CEP290) ENSP00000500729.1:n.*5417_*5419del
ENST00000672647.1:n.5771_5773del (CEP290)
ENST00000673058.2:c.7288_7290del (CEP290) ENSP00000500665.2:p.Glu2430del
ENST00000674712.1:n.938_940del (CEP290)
ENST00000674889.1:n.4364_4366del (CEP290)
ENST00000674971.1:c.*368_*370del (CEP290) ENSP00000502194.1:n.*368_*370del
ENST00000675230.1:c.7390_7392del (CEP290) ENSP00000502503.1:p.Glu2464del
ENST00000675408.1:c.7246_7248del (CEP290) ENSP00000502298.1:p.Glu2416del
ENST00000675476.1:c.8272_8274del (CEP290) ENSP00000502161.1:p.Glu2758del
ENST00000675628.1:n.9393_9395del (CEP290)
ENST00000675794.1:c.*5582_*5584del (CEP290) ENSP00000502841.1:n.*5582_*5584del
ENST00000675833.1:c.8179_8181del (CEP290) ENSP00000502559.1:p.Glu2727del
ENST00000675894.1:n.3716_3718del (CEP290)
ENST00000676074.1:c.*368_*370del (CEP290) ENSP00000502079.1:n.*368_*370del
ENST00000676181.1:n.8094_8096del (CEP290)
ENST00000676190.1:n.3605_3607del (CEP290)
ENST00000676363.1:n.13137_13139del (CEP290)
ENST00000309041.11:c.7417_7419del (CEP290) ENSP00000308021.7:p.Glu2473del
ENST00000356891.3:c.*795_*797del (RLIG1) ENSP00000349358.3:n.*795_*797del
ENST00000547691.6:c.4591_4593del (CEP290) ENSP00000446905.1:p.Glu1531del
ENST00000550333.5:c.*1538_*1540del (RLIG1) ENSP00000448194.1:n.*1538_*1540del
ENST00000552121.5:c.*1340_*1342del (RLIG1) ENSP00000447327.1:n.*1340_*1342del
ENST00000552810.5:c.7411_7413del (CEP290) ENSP00000448012.1:p.Glu2471del
NM_001009894.2:c.*795_*797del (RLIG1) NP_001009894.2:n.*795_*797del
NM_025114.3:c.7411_7413del (CEP290) NP_079390.3:p.Glu2471del
XM_011538756.1:c.8281_8283del (CEP290) XP_011537058.1:p.Glu2761del
XM_011538757.1:c.8281_8283del (CEP290) XP_011537059.1:p.Glu2761del
XM_011538758.1:c.8278_8280del (CEP290) XP_011537060.1:p.Glu2760del
XM_011538759.1:c.8272_8274del (CEP290) XP_011537061.1:p.Glu2758del
XM_011538760.1:c.8158_8160del (CEP290) XP_011537062.1:p.Glu2720del
XM_011538761.1:c.8116_8118del (CEP290) XP_011537063.1:p.Glu2706del
XM_011538762.1:c.7513_7515del (CEP290) XP_011537064.1:p.Glu2505del
XM_011538763.1:c.7420_7422del (CEP290) XP_011537065.1:p.Glu2474del
XM_011538766.1:c.6742_6744del (CEP290) XP_011537068.1:p.Glu2248del
XM_011538756.3:c.8281_8283del (CEP290) XP_011537058.1:p.Glu2761del
XM_011538757.3:c.8281_8283del (CEP290) XP_011537059.1:p.Glu2761del
XM_011538758.3:c.8278_8280del (CEP290) XP_011537060.1:p.Glu2760del
XM_011538759.2:c.8272_8274del (CEP290) XP_011537061.1:p.Glu2758del
XM_011538760.2:c.8158_8160del (CEP290) XP_011537062.1:p.Glu2720del
XM_011538761.2:c.8116_8118del (CEP290) XP_011537063.1:p.Glu2706del
XM_011538762.3:c.7513_7515del (CEP290) XP_011537064.1:p.Glu2505del
XM_011538763.3:c.7420_7422del (CEP290) XP_011537065.1:p.Glu2474del
XM_011538766.3:c.6742_6744del (CEP290) XP_011537068.1:p.Glu2248del
XM_017019980.2:c.8149_8151del (CEP290) XP_016875469.1:p.Glu2717del
XM_017019981.2:c.8107_8109del (CEP290) XP_016875470.1:p.Glu2703del
XM_017019983.2:c.7399_7401del (CEP290) XP_016875472.1:p.Glu2467del
NM_001009894.3:c.*795_*797del (RLIG1) MANE Select NP_001009894.2:n.*795_*797del
NM_025114.4:c.7411_7413del (CEP290) MANE Select NP_079390.3:p.Glu2471del