Canonical Allele Identifier: CA2695199129
Community Standard Title: NM_001009894.3(RLIG1):c.*957del
Gene: CEP290 HGNC NCBI
RLIG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88049379del , CM000674.2:g.88049379del GRCh38
NC_000012.11:g.88443156del , CM000674.1:g.88443156del GRCh37
NC_000012.10:g.86967287del NCBI36
NG_008417.1:g.97841del
NG_008417.2:g.97841del

Transcript Alleles

HGVS Amino-acid Change
NM_001009894.3:c.*957del (RLIG1) MANE Select NP_001009894.2:n.*957del
NM_025114.4:c.7248del (CEP290) MANE Select NP_079390.3:p.Phe2416LeufsTer20
ENST00000356891.4:c.*957del (RLIG1) MANE Select ENSP00000349358.3:n.*957del
ENST00000552810.6:c.7248del (CEP290) MANE Select ENSP00000448012.1:p.Phe2416LeufsTer20
NM_001009894.2:c.*957del (RLIG1) NP_001009894.2:n.*957del
NM_025114.3:c.7248del (CEP290) NP_079390.3:p.Phe2416LeufsTer20
ENST00000309041.11:c.7254del (CEP290) ENSP00000308021.7:p.Phe2418LeufsTer20
ENST00000309041.12:c.7257del (CEP290) ENSP00000308021.8:p.Phe2419LeufsTer20
ENST00000356891.3:c.*957del (RLIG1) ENSP00000349358.3:n.*957del
ENST00000547691.6:c.4428del (CEP290) ENSP00000446905.1:p.Phe1476LeufsTer20
ENST00000547691.8:c.4217del (CEP290)
ENST00000550333.5:c.*1700del (RLIG1) ENSP00000448194.1:n.*1700del
ENST00000552810.5:c.7248del (CEP290) ENSP00000448012.1:p.Phe2416LeufsTer20
ENST00000671777.2:n.1027del (CEP290)
ENST00000672414.2:c.*5254del (CEP290) ENSP00000500729.1:n.*5254del
ENST00000672647.1:n.5608del (CEP290)
ENST00000673058.2:c.7125del (CEP290) ENSP00000500665.2:p.Phe2375LeufsTer20
ENST00000674712.1:n.775del (CEP290)
ENST00000674889.1:n.4201del (CEP290)
ENST00000674971.1:c.*205del (CEP290) ENSP00000502194.1:n.*205del
ENST00000675230.1:c.7227del (CEP290) ENSP00000502503.1:p.Phe2409LeufsTer20
ENST00000675408.1:c.7083del (CEP290) ENSP00000502298.1:p.Phe2361LeufsTer20
ENST00000675476.1:c.8109del (CEP290) ENSP00000502161.1:p.Phe2703LeufsTer20
ENST00000675628.1:n.9230del (CEP290)
ENST00000675794.1:c.*5419del (CEP290) ENSP00000502841.1:n.*5419del
ENST00000675833.1:c.8016del (CEP290) ENSP00000502559.1:p.Phe2672LeufsTer20
ENST00000675894.1:n.3553del (CEP290)
ENST00000676074.1:c.*205del (CEP290) ENSP00000502079.1:n.*205del
ENST00000676181.1:n.7931del (CEP290)
ENST00000676190.1:n.3442del (CEP290)
ENST00000676363.1:n.12974del (CEP290)
XM_011538756.1:c.8118del (CEP290) XP_011537058.1:p.Phe2706LeufsTer20
XM_011538756.3:c.8118del (CEP290) XP_011537058.1:p.Phe2706LeufsTer20
XM_011538757.1:c.8118del (CEP290) XP_011537059.1:p.Phe2706LeufsTer20
XM_011538757.3:c.8118del (CEP290) XP_011537059.1:p.Phe2706LeufsTer20
XM_011538758.1:c.8115del (CEP290) XP_011537060.1:p.Phe2705LeufsTer20
XM_011538758.3:c.8115del (CEP290) XP_011537060.1:p.Phe2705LeufsTer20
XM_011538759.1:c.8109del (CEP290) XP_011537061.1:p.Phe2703LeufsTer20
XM_011538759.2:c.8109del (CEP290) XP_011537061.1:p.Phe2703LeufsTer20
XM_011538760.1:c.7995del (CEP290) XP_011537062.1:p.Phe2665LeufsTer20
XM_011538760.2:c.7995del (CEP290) XP_011537062.1:p.Phe2665LeufsTer20
XM_011538761.1:c.7953del (CEP290) XP_011537063.1:p.Phe2651LeufsTer20
XM_011538761.2:c.7953del (CEP290) XP_011537063.1:p.Phe2651LeufsTer20
XM_011538762.1:c.7350del (CEP290) XP_011537064.1:p.Phe2450LeufsTer20
XM_011538762.3:c.7350del (CEP290) XP_011537064.1:p.Phe2450LeufsTer20
XM_011538763.1:c.7257del (CEP290) XP_011537065.1:p.Phe2419LeufsTer20
XM_011538763.3:c.7257del (CEP290) XP_011537065.1:p.Phe2419LeufsTer20
XM_011538766.1:c.6579del (CEP290) XP_011537068.1:p.Phe2193LeufsTer20
XM_011538766.3:c.6579del (CEP290) XP_011537068.1:p.Phe2193LeufsTer20
XM_017019980.2:c.7986del (CEP290) XP_016875469.1:p.Phe2662LeufsTer20
XM_017019981.2:c.7944del (CEP290) XP_016875470.1:p.Phe2648LeufsTer20
XM_017019983.2:c.7236del (CEP290) XP_016875472.1:p.Phe2412LeufsTer20
XR_001748869.1:n.8379del (CEP290)
XR_001748870.2:n.8214del (CEP290)