Canonical Allele Identifier: CA6711283
Community Standard Title: NM_001009894.3(RLIG1):c.*858_*861dup
Gene: CEP290 HGNC NCBI
RLIG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88049280_88049283dup , CM000674.2:g.88049280_88049283dup GRCh38
NC_000012.11:g.88443057_88443060dup , CM000674.1:g.88443057_88443060dup GRCh37
NC_000012.10:g.86967188_86967191dup NCBI36
NG_008417.1:g.97934_97937dup
NG_008417.2:g.97934_97937dup

Transcript Alleles

HGVS Amino-acid Change
NM_001009894.3:c.*858_*861dup (RLIG1) MANE Select NP_001009894.2:n.*858_*861dup
NM_025114.4:c.7341_7344dup (CEP290) MANE Select NP_079390.3:p.Ser2449ThrfsTer8
ENST00000356891.4:c.*858_*861dup (RLIG1) MANE Select ENSP00000349358.3:n.*858_*861dup
ENST00000552810.6:c.7341_7344dup (CEP290) MANE Select ENSP00000448012.1:p.Ser2449ThrfsTer8
NM_001009894.2:c.*858_*861dup (RLIG1) NP_001009894.2:n.*858_*861dup
NM_025114.3:c.7341_7344dup (CEP290) NP_079390.3:p.Ser2449ThrfsTer8
ENST00000309041.11:c.7347_7350dup (CEP290) ENSP00000308021.7:p.Ser2451ThrfsTer8
ENST00000309041.12:c.7350_7353dup (CEP290) ENSP00000308021.8:p.Ser2452ThrfsTer8
ENST00000356891.3:c.*858_*861dup (RLIG1) ENSP00000349358.3:n.*858_*861dup
ENST00000547691.6:c.4521_4524dup (CEP290) ENSP00000446905.1:p.Ser1509ThrfsTer8
ENST00000547691.8:c.4310_4313dup (CEP290)
ENST00000550333.5:c.*1601_*1604dup (RLIG1) ENSP00000448194.1:n.*1601_*1604dup
ENST00000552810.5:c.7341_7344dup (CEP290) ENSP00000448012.1:p.Ser2449ThrfsTer8
ENST00000671777.2:n.1120_1123dup (CEP290)
ENST00000672414.2:c.*5347_*5350dup (CEP290) ENSP00000500729.1:n.*5347_*5350dup
ENST00000672647.1:n.5701_5704dup (CEP290)
ENST00000673058.2:c.7218_7221dup (CEP290) ENSP00000500665.2:p.Ser2408ThrfsTer8
ENST00000674712.1:n.868_871dup (CEP290)
ENST00000674889.1:n.4294_4297dup (CEP290)
ENST00000674971.1:c.*298_*301dup (CEP290) ENSP00000502194.1:n.*298_*301dup
ENST00000675230.1:c.7320_7323dup (CEP290) ENSP00000502503.1:p.Ser2442ThrfsTer8
ENST00000675408.1:c.7176_7179dup (CEP290) ENSP00000502298.1:p.Ser2394ThrfsTer8
ENST00000675476.1:c.8202_8205dup (CEP290) ENSP00000502161.1:p.Ser2736ThrfsTer8
ENST00000675628.1:n.9323_9326dup (CEP290)
ENST00000675794.1:c.*5512_*5515dup (CEP290) ENSP00000502841.1:n.*5512_*5515dup
ENST00000675833.1:c.8109_8112dup (CEP290) ENSP00000502559.1:p.Ser2705ThrfsTer8
ENST00000675894.1:n.3646_3649dup (CEP290)
ENST00000676074.1:c.*298_*301dup (CEP290) ENSP00000502079.1:n.*298_*301dup
ENST00000676181.1:n.8024_8027dup (CEP290)
ENST00000676190.1:n.3535_3538dup (CEP290)
ENST00000676363.1:n.13067_13070dup (CEP290)
XM_011538756.1:c.8211_8214dup (CEP290) XP_011537058.1:p.Ser2739ThrfsTer8
XM_011538756.3:c.8211_8214dup (CEP290) XP_011537058.1:p.Ser2739ThrfsTer8
XM_011538757.1:c.8211_8214dup (CEP290) XP_011537059.1:p.Ser2739ThrfsTer8
XM_011538757.3:c.8211_8214dup (CEP290) XP_011537059.1:p.Ser2739ThrfsTer8
XM_011538758.1:c.8208_8211dup (CEP290) XP_011537060.1:p.Ser2738ThrfsTer8
XM_011538758.3:c.8208_8211dup (CEP290) XP_011537060.1:p.Ser2738ThrfsTer8
XM_011538759.1:c.8202_8205dup (CEP290) XP_011537061.1:p.Ser2736ThrfsTer8
XM_011538759.2:c.8202_8205dup (CEP290) XP_011537061.1:p.Ser2736ThrfsTer8
XM_011538760.1:c.8088_8091dup (CEP290) XP_011537062.1:p.Ser2698ThrfsTer8
XM_011538760.2:c.8088_8091dup (CEP290) XP_011537062.1:p.Ser2698ThrfsTer8
XM_011538761.1:c.8046_8049dup (CEP290) XP_011537063.1:p.Ser2684ThrfsTer8
XM_011538761.2:c.8046_8049dup (CEP290) XP_011537063.1:p.Ser2684ThrfsTer8
XM_011538762.1:c.7443_7446dup (CEP290) XP_011537064.1:p.Ser2483ThrfsTer8
XM_011538762.3:c.7443_7446dup (CEP290) XP_011537064.1:p.Ser2483ThrfsTer8
XM_011538763.1:c.7350_7353dup (CEP290) XP_011537065.1:p.Ser2452ThrfsTer8
XM_011538763.3:c.7350_7353dup (CEP290) XP_011537065.1:p.Ser2452ThrfsTer8
XM_011538766.1:c.6672_6675dup (CEP290) XP_011537068.1:p.Ser2226ThrfsTer8
XM_011538766.3:c.6672_6675dup (CEP290) XP_011537068.1:p.Ser2226ThrfsTer8
XM_017019980.2:c.8079_8082dup (CEP290) XP_016875469.1:p.Ser2695ThrfsTer8
XM_017019981.2:c.8037_8040dup (CEP290) XP_016875470.1:p.Ser2681ThrfsTer8
XM_017019983.2:c.7329_7332dup (CEP290) XP_016875472.1:p.Ser2445ThrfsTer8