Canonical Allele Identifier: CA2580086700
Community Standard Title: NM_001009894.3(RLIG1):c.*872del
Gene: CEP290 HGNC NCBI
RLIG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88049294del , CM000674.2:g.88049294del GRCh38
NC_000012.11:g.88443071del , CM000674.1:g.88443071del GRCh37
NC_000012.10:g.86967202del NCBI36
NG_008417.1:g.97924del
NG_008417.2:g.97924del

Transcript Alleles

HGVS Amino-acid Change
NM_001009894.3:c.*872del (RLIG1) MANE Select NP_001009894.2:n.*872del
NM_025114.4:c.7331del (CEP290) MANE Select NP_079390.3:p.Lys2444ArgfsTer2
ENST00000356891.4:c.*872del (RLIG1) MANE Select ENSP00000349358.3:n.*872del
ENST00000552810.6:c.7331del (CEP290) MANE Select ENSP00000448012.1:p.Lys2444ArgfsTer2
NM_001009894.2:c.*872del (RLIG1) NP_001009894.2:n.*872del
NM_025114.3:c.7331del (CEP290) NP_079390.3:p.Lys2444ArgfsTer2
ENST00000309041.11:c.7337del (CEP290) ENSP00000308021.7:p.Lys2446ArgfsTer2
ENST00000309041.12:c.7340del (CEP290) ENSP00000308021.8:p.Lys2447ArgfsTer2
ENST00000356891.3:c.*872del (RLIG1) ENSP00000349358.3:n.*872del
ENST00000547691.6:c.4511del (CEP290) ENSP00000446905.1:p.Lys1504ArgfsTer2
ENST00000547691.8:c.4300del (CEP290)
ENST00000550333.5:c.*1615del (RLIG1) ENSP00000448194.1:n.*1615del
ENST00000552810.5:c.7331del (CEP290) ENSP00000448012.1:p.Lys2444ArgfsTer2
ENST00000671777.2:n.1110del (CEP290)
ENST00000672414.2:c.*5337del (CEP290) ENSP00000500729.1:n.*5337del
ENST00000672647.1:n.5691del (CEP290)
ENST00000673058.2:c.7208del (CEP290) ENSP00000500665.2:p.Lys2403ArgfsTer2
ENST00000674712.1:n.858del (CEP290)
ENST00000674889.1:n.4284del (CEP290)
ENST00000674971.1:c.*288del (CEP290) ENSP00000502194.1:n.*288del
ENST00000675230.1:c.7310del (CEP290) ENSP00000502503.1:p.Lys2437ArgfsTer2
ENST00000675408.1:c.7166del (CEP290) ENSP00000502298.1:p.Lys2389ArgfsTer2
ENST00000675476.1:c.8192del (CEP290) ENSP00000502161.1:p.Lys2731ArgfsTer2
ENST00000675628.1:n.9313del (CEP290)
ENST00000675794.1:c.*5502del (CEP290) ENSP00000502841.1:n.*5502del
ENST00000675833.1:c.8099del (CEP290) ENSP00000502559.1:p.Lys2700ArgfsTer2
ENST00000675894.1:n.3636del (CEP290)
ENST00000676074.1:c.*288del (CEP290) ENSP00000502079.1:n.*288del
ENST00000676181.1:n.8014del (CEP290)
ENST00000676190.1:n.3525del (CEP290)
ENST00000676363.1:n.13057del (CEP290)
XM_011538756.1:c.8201del (CEP290) XP_011537058.1:p.Lys2734ArgfsTer2
XM_011538756.3:c.8201del (CEP290) XP_011537058.1:p.Lys2734ArgfsTer2
XM_011538757.1:c.8201del (CEP290) XP_011537059.1:p.Lys2734ArgfsTer2
XM_011538757.3:c.8201del (CEP290) XP_011537059.1:p.Lys2734ArgfsTer2
XM_011538758.1:c.8198del (CEP290) XP_011537060.1:p.Lys2733ArgfsTer2
XM_011538758.3:c.8198del (CEP290) XP_011537060.1:p.Lys2733ArgfsTer2
XM_011538759.1:c.8192del (CEP290) XP_011537061.1:p.Lys2731ArgfsTer2
XM_011538759.2:c.8192del (CEP290) XP_011537061.1:p.Lys2731ArgfsTer2
XM_011538760.1:c.8078del (CEP290) XP_011537062.1:p.Lys2693ArgfsTer2
XM_011538760.2:c.8078del (CEP290) XP_011537062.1:p.Lys2693ArgfsTer2
XM_011538761.1:c.8036del (CEP290) XP_011537063.1:p.Lys2679ArgfsTer2
XM_011538761.2:c.8036del (CEP290) XP_011537063.1:p.Lys2679ArgfsTer2
XM_011538762.1:c.7433del (CEP290) XP_011537064.1:p.Lys2478ArgfsTer2
XM_011538762.3:c.7433del (CEP290) XP_011537064.1:p.Lys2478ArgfsTer2
XM_011538763.1:c.7340del (CEP290) XP_011537065.1:p.Lys2447ArgfsTer2
XM_011538763.3:c.7340del (CEP290) XP_011537065.1:p.Lys2447ArgfsTer2
XM_011538766.1:c.6662del (CEP290) XP_011537068.1:p.Lys2221ArgfsTer2
XM_011538766.3:c.6662del (CEP290) XP_011537068.1:p.Lys2221ArgfsTer2
XM_017019980.2:c.8069del (CEP290) XP_016875469.1:p.Lys2690ArgfsTer2
XM_017019981.2:c.8027del (CEP290) XP_016875470.1:p.Lys2676ArgfsTer2
XM_017019983.2:c.7319del (CEP290) XP_016875472.1:p.Lys2440ArgfsTer2