Canonical Allele Identifier: CA2549685780
Gene: CEP290 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88050357_88050368del , CM000674.2:g.88050357_88050368del GRCh38
NC_000012.11:g.88444134_88444145del , CM000674.1:g.88444134_88444145del GRCh37
NC_000012.10:g.86968265_86968276del NCBI36
NG_008417.1:g.96852_96863del
NG_008417.2:g.96852_96863del

Transcript Alleles

HGVS Amino-acid Change
NM_025114.4:c.7198_7209del MANE Select NP_079390.3:p.Gln2400_Lys2403del
ENST00000552810.6:c.7198_7209del MANE Select ENSP00000448012.1:p.Gln2400_Lys2403del
NM_025114.3:c.7198_7209del NP_079390.3:p.Gln2400_Lys2403del
ENST00000309041.11:c.7204_7215del ENSP00000308021.7:p.Gln2402_Lys2405del
ENST00000309041.12:c.7207_7218del ENSP00000308021.8:p.Gln2403_Lys2406del
ENST00000547691.6:c.4378_4389del ENSP00000446905.1:p.Gln1460_Lys1463del
ENST00000547691.8:c.4167_4178del
ENST00000552810.5:c.7198_7209del ENSP00000448012.1:p.Gln2400_Lys2403del
ENST00000671777.2:n.977_988del
ENST00000672414.2:c.*5204_*5215del ENSP00000500729.1:n.*5204_*5215del
ENST00000672647.1:n.5558_5569del
ENST00000673058.2:c.7075_7086del ENSP00000500665.2:p.Gln2359_Lys2362del
ENST00000674712.1:n.725_736del
ENST00000674889.1:n.4151_4162del
ENST00000674971.1:c.*155_*166del ENSP00000502194.1:n.*155_*166del
ENST00000675230.1:c.7177_7188del ENSP00000502503.1:p.Gln2393_Lys2396del
ENST00000675408.1:c.7033_7044del ENSP00000502298.1:p.Gln2345_Lys2348del
ENST00000675476.1:c.8059_8070del ENSP00000502161.1:p.Gln2687_Lys2690del
ENST00000675628.1:n.9180_9191del
ENST00000675794.1:c.*5369_*5380del ENSP00000502841.1:n.*5369_*5380del
ENST00000675833.1:c.7966_7977del ENSP00000502559.1:p.Gln2656_Lys2659del
ENST00000675894.1:n.3503_3514del
ENST00000676074.1:c.*155_*166del ENSP00000502079.1:n.*155_*166del
ENST00000676181.1:n.7881_7892del
ENST00000676190.1:n.3392_3403del
ENST00000676363.1:n.12924_12935del
XM_011538756.1:c.8068_8079del XP_011537058.1:p.Gln2690_Lys2693del
XM_011538756.3:c.8068_8079del XP_011537058.1:p.Gln2690_Lys2693del
XM_011538757.1:c.8068_8079del XP_011537059.1:p.Gln2690_Lys2693del
XM_011538757.3:c.8068_8079del XP_011537059.1:p.Gln2690_Lys2693del
XM_011538758.1:c.8065_8076del XP_011537060.1:p.Gln2689_Lys2692del
XM_011538758.3:c.8065_8076del XP_011537060.1:p.Gln2689_Lys2692del
XM_011538759.1:c.8059_8070del XP_011537061.1:p.Gln2687_Lys2690del
XM_011538759.2:c.8059_8070del XP_011537061.1:p.Gln2687_Lys2690del
XM_011538760.1:c.7945_7956del XP_011537062.1:p.Gln2649_Lys2652del
XM_011538760.2:c.7945_7956del XP_011537062.1:p.Gln2649_Lys2652del
XM_011538761.1:c.7903_7914del XP_011537063.1:p.Gln2635_Lys2638del
XM_011538761.2:c.7903_7914del XP_011537063.1:p.Gln2635_Lys2638del
XM_011538762.1:c.7300_7311del XP_011537064.1:p.Gln2434_Lys2437del
XM_011538762.3:c.7300_7311del XP_011537064.1:p.Gln2434_Lys2437del
XM_011538763.1:c.7207_7218del XP_011537065.1:p.Gln2403_Lys2406del
XM_011538763.3:c.7207_7218del XP_011537065.1:p.Gln2403_Lys2406del
XM_011538766.1:c.6529_6540del XP_011537068.1:p.Gln2177_Lys2180del
XM_011538766.3:c.6529_6540del XP_011537068.1:p.Gln2177_Lys2180del
XM_017019980.2:c.7936_7947del XP_016875469.1:p.Gln2646_Lys2649del
XM_017019981.2:c.7894_7905del XP_016875470.1:p.Gln2632_Lys2635del
XM_017019983.2:c.7186_7197del XP_016875472.1:p.Gln2396_Lys2399del
XR_001748869.1:n.8329_8340del
XR_001748870.2:n.8164_8175del