Canonical Allele Identifier: CA693034616
Community Standard Title: NM_001009894.3(RLIG1):c.*944dup
Gene: CEP290 HGNC NCBI
RLIG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88049366dup , CM000674.2:g.88049366dup GRCh38
NC_000012.11:g.88443143dup , CM000674.1:g.88443143dup GRCh37
NC_000012.10:g.86967274dup NCBI36
NG_008417.1:g.97856dup
NG_008417.2:g.97856dup

Transcript Alleles

HGVS Amino-acid Change
NM_001009894.3:c.*944dup (RLIG1) MANE Select NP_001009894.2:n.*944dup
NM_025114.4:c.7263dup (CEP290) MANE Select NP_079390.3:p.Glu2422Ter
ENST00000356891.4:c.*944dup (RLIG1) MANE Select ENSP00000349358.3:n.*944dup
ENST00000552810.6:c.7263dup (CEP290) MANE Select ENSP00000448012.1:p.Glu2422Ter
NM_001009894.2:c.*944dup (RLIG1) NP_001009894.2:n.*944dup
NM_025114.3:c.7263dup (CEP290) NP_079390.3:p.Glu2422Ter
ENST00000309041.11:c.7269dup (CEP290) ENSP00000308021.7:p.Glu2424Ter
ENST00000309041.12:c.7272dup (CEP290) ENSP00000308021.8:p.Glu2425Ter
ENST00000356891.3:c.*944dup (RLIG1) ENSP00000349358.3:n.*944dup
ENST00000547691.6:c.4443dup (CEP290) ENSP00000446905.1:p.Glu1482Ter
ENST00000547691.8:c.4232dup (CEP290)
ENST00000550333.5:c.*1687dup (RLIG1) ENSP00000448194.1:n.*1687dup
ENST00000552810.5:c.7263dup (CEP290) ENSP00000448012.1:p.Glu2422Ter
ENST00000671777.2:n.1042dup (CEP290)
ENST00000672414.2:c.*5269dup (CEP290) ENSP00000500729.1:n.*5269dup
ENST00000672647.1:n.5623dup (CEP290)
ENST00000673058.2:c.7140dup (CEP290) ENSP00000500665.2:p.Glu2381Ter
ENST00000674712.1:n.790dup (CEP290)
ENST00000674889.1:n.4216dup (CEP290)
ENST00000674971.1:c.*220dup (CEP290) ENSP00000502194.1:n.*220dup
ENST00000675230.1:c.7242dup (CEP290) ENSP00000502503.1:p.Glu2415Ter
ENST00000675408.1:c.7098dup (CEP290) ENSP00000502298.1:p.Glu2367Ter
ENST00000675476.1:c.8124dup (CEP290) ENSP00000502161.1:p.Glu2709Ter
ENST00000675628.1:n.9245dup (CEP290)
ENST00000675794.1:c.*5434dup (CEP290) ENSP00000502841.1:n.*5434dup
ENST00000675833.1:c.8031dup (CEP290) ENSP00000502559.1:p.Glu2678Ter
ENST00000675894.1:n.3568dup (CEP290)
ENST00000676074.1:c.*220dup (CEP290) ENSP00000502079.1:n.*220dup
ENST00000676181.1:n.7946dup (CEP290)
ENST00000676190.1:n.3457dup (CEP290)
ENST00000676363.1:n.12989dup (CEP290)
XM_011538756.1:c.8133dup (CEP290) XP_011537058.1:p.Glu2712Ter
XM_011538756.3:c.8133dup (CEP290) XP_011537058.1:p.Glu2712Ter
XM_011538757.1:c.8133dup (CEP290) XP_011537059.1:p.Glu2712Ter
XM_011538757.3:c.8133dup (CEP290) XP_011537059.1:p.Glu2712Ter
XM_011538758.1:c.8130dup (CEP290) XP_011537060.1:p.Glu2711Ter
XM_011538758.3:c.8130dup (CEP290) XP_011537060.1:p.Glu2711Ter
XM_011538759.1:c.8124dup (CEP290) XP_011537061.1:p.Glu2709Ter
XM_011538759.2:c.8124dup (CEP290) XP_011537061.1:p.Glu2709Ter
XM_011538760.1:c.8010dup (CEP290) XP_011537062.1:p.Glu2671Ter
XM_011538760.2:c.8010dup (CEP290) XP_011537062.1:p.Glu2671Ter
XM_011538761.1:c.7968dup (CEP290) XP_011537063.1:p.Glu2657Ter
XM_011538761.2:c.7968dup (CEP290) XP_011537063.1:p.Glu2657Ter
XM_011538762.1:c.7365dup (CEP290) XP_011537064.1:p.Glu2456Ter
XM_011538762.3:c.7365dup (CEP290) XP_011537064.1:p.Glu2456Ter
XM_011538763.1:c.7272dup (CEP290) XP_011537065.1:p.Glu2425Ter
XM_011538763.3:c.7272dup (CEP290) XP_011537065.1:p.Glu2425Ter
XM_011538766.1:c.6594dup (CEP290) XP_011537068.1:p.Glu2199Ter
XM_011538766.3:c.6594dup (CEP290) XP_011537068.1:p.Glu2199Ter
XM_017019980.2:c.8001dup (CEP290) XP_016875469.1:p.Glu2668Ter
XM_017019981.2:c.7959dup (CEP290) XP_016875470.1:p.Glu2654Ter
XM_017019983.2:c.7251dup (CEP290) XP_016875472.1:p.Glu2418Ter
XR_001748869.1:n.8394dup (CEP290)
XR_001748870.2:n.8229dup (CEP290)