Canonical Allele Identifier: CA6711284
Community Standard Title: NM_001009894.3(RLIG1):c.*867del
Gene: CEP290 HGNC NCBI
RLIG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88049289del , CM000674.2:g.88049289del GRCh38
NC_000012.11:g.88443066del , CM000674.1:g.88443066del GRCh37
NC_000012.10:g.86967197del NCBI36
NG_008417.1:g.97934del
NG_008417.2:g.97934del

Transcript Alleles

HGVS Amino-acid Change
NM_001009894.3:c.*867del (RLIG1) MANE Select NP_001009894.2:n.*867del
NM_025114.4:c.7341del (CEP290) MANE Select NP_079390.3:p.Lys2447AsnfsTer10
ENST00000356891.4:c.*867del (RLIG1) MANE Select ENSP00000349358.3:n.*867del
ENST00000552810.6:c.7341del (CEP290) MANE Select ENSP00000448012.1:p.Lys2447AsnfsTer10
NM_001009894.2:c.*867del (RLIG1) NP_001009894.2:n.*867del
NM_025114.3:c.7341del (CEP290) NP_079390.3:p.Lys2447AsnfsTer10
ENST00000309041.11:c.7347del (CEP290) ENSP00000308021.7:p.Lys2449AsnfsTer10
ENST00000309041.12:c.7350del (CEP290) ENSP00000308021.8:p.Lys2450AsnfsTer10
ENST00000356891.3:c.*867del (RLIG1) ENSP00000349358.3:n.*867del
ENST00000547691.6:c.4521del (CEP290) ENSP00000446905.1:p.Lys1507AsnfsTer10
ENST00000547691.8:c.4310del (CEP290)
ENST00000550333.5:c.*1610del (RLIG1) ENSP00000448194.1:n.*1610del
ENST00000552810.5:c.7341del (CEP290) ENSP00000448012.1:p.Lys2447AsnfsTer10
ENST00000671777.2:n.1120del (CEP290)
ENST00000672414.2:c.*5347del (CEP290) ENSP00000500729.1:n.*5347del
ENST00000672647.1:n.5701del (CEP290)
ENST00000673058.2:c.7218del (CEP290) ENSP00000500665.2:p.Lys2406AsnfsTer10
ENST00000674712.1:n.868del (CEP290)
ENST00000674889.1:n.4294del (CEP290)
ENST00000674971.1:c.*298del (CEP290) ENSP00000502194.1:n.*298del
ENST00000675230.1:c.7320del (CEP290) ENSP00000502503.1:p.Lys2440AsnfsTer10
ENST00000675408.1:c.7176del (CEP290) ENSP00000502298.1:p.Lys2392AsnfsTer10
ENST00000675476.1:c.8202del (CEP290) ENSP00000502161.1:p.Lys2734AsnfsTer10
ENST00000675628.1:n.9323del (CEP290)
ENST00000675794.1:c.*5512del (CEP290) ENSP00000502841.1:n.*5512del
ENST00000675833.1:c.8109del (CEP290) ENSP00000502559.1:p.Lys2703AsnfsTer10
ENST00000675894.1:n.3646del (CEP290)
ENST00000676074.1:c.*298del (CEP290) ENSP00000502079.1:n.*298del
ENST00000676181.1:n.8024del (CEP290)
ENST00000676190.1:n.3535del (CEP290)
ENST00000676363.1:n.13067del (CEP290)
XM_011538756.1:c.8211del (CEP290) XP_011537058.1:p.Lys2737AsnfsTer10
XM_011538756.3:c.8211del (CEP290) XP_011537058.1:p.Lys2737AsnfsTer10
XM_011538757.1:c.8211del (CEP290) XP_011537059.1:p.Lys2737AsnfsTer10
XM_011538757.3:c.8211del (CEP290) XP_011537059.1:p.Lys2737AsnfsTer10
XM_011538758.1:c.8208del (CEP290) XP_011537060.1:p.Lys2736AsnfsTer10
XM_011538758.3:c.8208del (CEP290) XP_011537060.1:p.Lys2736AsnfsTer10
XM_011538759.1:c.8202del (CEP290) XP_011537061.1:p.Lys2734AsnfsTer10
XM_011538759.2:c.8202del (CEP290) XP_011537061.1:p.Lys2734AsnfsTer10
XM_011538760.1:c.8088del (CEP290) XP_011537062.1:p.Lys2696AsnfsTer10
XM_011538760.2:c.8088del (CEP290) XP_011537062.1:p.Lys2696AsnfsTer10
XM_011538761.1:c.8046del (CEP290) XP_011537063.1:p.Lys2682AsnfsTer10
XM_011538761.2:c.8046del (CEP290) XP_011537063.1:p.Lys2682AsnfsTer10
XM_011538762.1:c.7443del (CEP290) XP_011537064.1:p.Lys2481AsnfsTer10
XM_011538762.3:c.7443del (CEP290) XP_011537064.1:p.Lys2481AsnfsTer10
XM_011538763.1:c.7350del (CEP290) XP_011537065.1:p.Lys2450AsnfsTer10
XM_011538763.3:c.7350del (CEP290) XP_011537065.1:p.Lys2450AsnfsTer10
XM_011538766.1:c.6672del (CEP290) XP_011537068.1:p.Lys2224AsnfsTer10
XM_011538766.3:c.6672del (CEP290) XP_011537068.1:p.Lys2224AsnfsTer10
XM_017019980.2:c.8079del (CEP290) XP_016875469.1:p.Lys2693AsnfsTer10
XM_017019981.2:c.8037del (CEP290) XP_016875470.1:p.Lys2679AsnfsTer10
XM_017019983.2:c.7329del (CEP290) XP_016875472.1:p.Lys2443AsnfsTer10