Canonical Allele Identifier: CA2740092429
Community Standard Title: NM_001009894.3(RLIG1):c.*807_*809dup
Gene: CEP290 HGNC NCBI
RLIG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88049229_88049231dup , CM000674.2:g.88049229_88049231dup GRCh38
NC_000012.11:g.88443006_88443008dup , CM000674.1:g.88443006_88443008dup GRCh37
NC_000012.10:g.86967137_86967139dup NCBI36
NG_008417.1:g.97986_97988dup
NG_008417.2:g.97986_97988dup

Transcript Alleles

HGVS Amino-acid Change
NM_001009894.3:c.*807_*809dup (RLIG1) MANE Select NP_001009894.2:n.*807_*809dup
NM_025114.4:c.7393_7395dup (CEP290) MANE Select NP_079390.3:p.Glu2465_Phe2466insGlu
ENST00000356891.4:c.*807_*809dup (RLIG1) MANE Select ENSP00000349358.3:n.*807_*809dup
ENST00000552810.6:c.7393_7395dup (CEP290) MANE Select ENSP00000448012.1:p.Glu2465_Phe2466insGlu
NM_001009894.2:c.*807_*809dup (RLIG1) NP_001009894.2:n.*807_*809dup
NM_025114.3:c.7393_7395dup (CEP290) NP_079390.3:p.Glu2465_Phe2466insGlu
ENST00000309041.11:c.7399_7401dup (CEP290) ENSP00000308021.7:p.Glu2467_Phe2468insGlu
ENST00000309041.12:c.7402_7404dup (CEP290) ENSP00000308021.8:p.Glu2468_Phe2469insGlu
ENST00000356891.3:c.*807_*809dup (RLIG1) ENSP00000349358.3:n.*807_*809dup
ENST00000547691.6:c.4573_4575dup (CEP290) ENSP00000446905.1:p.Glu1525_Phe1526insGlu
ENST00000547691.8:c.4362_4364dup (CEP290)
ENST00000550333.5:c.*1550_*1552dup (RLIG1) ENSP00000448194.1:n.*1550_*1552dup
ENST00000552810.5:c.7393_7395dup (CEP290) ENSP00000448012.1:p.Glu2465_Phe2466insGlu
ENST00000671777.2:n.1172_1174dup (CEP290)
ENST00000672414.2:c.*5399_*5401dup (CEP290) ENSP00000500729.1:n.*5399_*5401dup
ENST00000672647.1:n.5753_5755dup (CEP290)
ENST00000673058.2:c.7270_7272dup (CEP290) ENSP00000500665.2:p.Glu2424_Phe2425insGlu
ENST00000674712.1:n.920_922dup (CEP290)
ENST00000674889.1:n.4346_4348dup (CEP290)
ENST00000674971.1:c.*350_*352dup (CEP290) ENSP00000502194.1:n.*350_*352dup
ENST00000675230.1:c.7372_7374dup (CEP290) ENSP00000502503.1:p.Glu2458_Phe2459insGlu
ENST00000675408.1:c.7228_7230dup (CEP290) ENSP00000502298.1:p.Glu2410_Phe2411insGlu
ENST00000675476.1:c.8254_8256dup (CEP290) ENSP00000502161.1:p.Glu2752_Phe2753insGlu
ENST00000675628.1:n.9375_9377dup (CEP290)
ENST00000675794.1:c.*5564_*5566dup (CEP290) ENSP00000502841.1:n.*5564_*5566dup
ENST00000675833.1:c.8161_8163dup (CEP290) ENSP00000502559.1:p.Glu2721_Phe2722insGlu
ENST00000675894.1:n.3698_3700dup (CEP290)
ENST00000676074.1:c.*350_*352dup (CEP290) ENSP00000502079.1:n.*350_*352dup
ENST00000676181.1:n.8076_8078dup (CEP290)
ENST00000676190.1:n.3587_3589dup (CEP290)
ENST00000676363.1:n.13119_13121dup (CEP290)
XM_011538756.1:c.8263_8265dup (CEP290) XP_011537058.1:p.Glu2755_Phe2756insGlu
XM_011538756.3:c.8263_8265dup (CEP290) XP_011537058.1:p.Glu2755_Phe2756insGlu
XM_011538757.1:c.8263_8265dup (CEP290) XP_011537059.1:p.Glu2755_Phe2756insGlu
XM_011538757.3:c.8263_8265dup (CEP290) XP_011537059.1:p.Glu2755_Phe2756insGlu
XM_011538758.1:c.8260_8262dup (CEP290) XP_011537060.1:p.Glu2754_Phe2755insGlu
XM_011538758.3:c.8260_8262dup (CEP290) XP_011537060.1:p.Glu2754_Phe2755insGlu
XM_011538759.1:c.8254_8256dup (CEP290) XP_011537061.1:p.Glu2752_Phe2753insGlu
XM_011538759.2:c.8254_8256dup (CEP290) XP_011537061.1:p.Glu2752_Phe2753insGlu
XM_011538760.1:c.8140_8142dup (CEP290) XP_011537062.1:p.Glu2714_Phe2715insGlu
XM_011538760.2:c.8140_8142dup (CEP290) XP_011537062.1:p.Glu2714_Phe2715insGlu
XM_011538761.1:c.8098_8100dup (CEP290) XP_011537063.1:p.Glu2700_Phe2701insGlu
XM_011538761.2:c.8098_8100dup (CEP290) XP_011537063.1:p.Glu2700_Phe2701insGlu
XM_011538762.1:c.7495_7497dup (CEP290) XP_011537064.1:p.Glu2499_Phe2500insGlu
XM_011538762.3:c.7495_7497dup (CEP290) XP_011537064.1:p.Glu2499_Phe2500insGlu
XM_011538763.1:c.7402_7404dup (CEP290) XP_011537065.1:p.Glu2468_Phe2469insGlu
XM_011538763.3:c.7402_7404dup (CEP290) XP_011537065.1:p.Glu2468_Phe2469insGlu
XM_011538766.1:c.6724_6726dup (CEP290) XP_011537068.1:p.Glu2242_Phe2243insGlu
XM_011538766.3:c.6724_6726dup (CEP290) XP_011537068.1:p.Glu2242_Phe2243insGlu
XM_017019980.2:c.8131_8133dup (CEP290) XP_016875469.1:p.Glu2711_Phe2712insGlu
XM_017019981.2:c.8089_8091dup (CEP290) XP_016875470.1:p.Glu2697_Phe2698insGlu
XM_017019983.2:c.7381_7383dup (CEP290) XP_016875472.1:p.Glu2461_Phe2462insGlu