Canonical Allele Identifier: CA6711313

Gene: CEP290 RLIG1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88049403_88049406del , CM000674.2:g.88049403_88049406del	GRCh38
NC_000012.11:g.88443180_88443183del , CM000674.1:g.88443180_88443183del	GRCh37
NC_000012.10:g.86967311_86967314del	NCBI36
NG_008417.1:g.97813_97816del
NG_008417.2:g.97813_97816del

Transcript Alleles

HGVS	Amino-acid Change
NM_001009894.3:c.*981_*984del (RLIG1) MANE Select	NP_001009894.2:n.*981_*984del
NM_025114.4:c.7220_7223del (CEP290) MANE Select	NP_079390.3:p.Lys2407SerfsTer2
ENST00000356891.4:c.*981_*984del (RLIG1) MANE Select	ENSP00000349358.3:n.*981_*984del
ENST00000552810.6:c.7220_7223del (CEP290) MANE Select	ENSP00000448012.1:p.Lys2407SerfsTer2
NM_001009894.2:c.*981_*984del (RLIG1)	NP_001009894.2:n.*981_*984del
NM_025114.3:c.7220_7223del (CEP290)	NP_079390.3:p.Lys2407SerfsTer2
ENST00000309041.11:c.7226_7229del (CEP290)	ENSP00000308021.7:p.Lys2409SerfsTer2
ENST00000309041.12:c.7229_7232del (CEP290)	ENSP00000308021.8:p.Lys2410SerfsTer2
ENST00000356891.3:c.*981_*984del (RLIG1)	ENSP00000349358.3:n.*981_*984del
ENST00000547691.6:c.4400_4403del (CEP290)	ENSP00000446905.1:p.Lys1467SerfsTer2
ENST00000547691.8:c.4189_4192del (CEP290)
ENST00000550333.5:c.*1724_*1727del (RLIG1)	ENSP00000448194.1:n.*1724_*1727del
ENST00000552810.5:c.7220_7223del (CEP290)	ENSP00000448012.1:p.Lys2407SerfsTer2
ENST00000671777.2:n.999_1002del (CEP290)
ENST00000672414.2:c.*5226_*5229del (CEP290)	ENSP00000500729.1:n.*5226_*5229del
ENST00000672647.1:n.5580_5583del (CEP290)
ENST00000673058.2:c.7097_7100del (CEP290)	ENSP00000500665.2:p.Lys2366SerfsTer2
ENST00000674712.1:n.747_750del (CEP290)
ENST00000674889.1:n.4173_4176del (CEP290)
ENST00000674971.1:c.*177_*180del (CEP290)	ENSP00000502194.1:n.*177_*180del
ENST00000675230.1:c.7199_7202del (CEP290)	ENSP00000502503.1:p.Lys2400SerfsTer2
ENST00000675408.1:c.7055_7058del (CEP290)	ENSP00000502298.1:p.Lys2352SerfsTer2
ENST00000675476.1:c.8081_8084del (CEP290)	ENSP00000502161.1:p.Lys2694SerfsTer2
ENST00000675628.1:n.9202_9205del (CEP290)
ENST00000675794.1:c.*5391_*5394del (CEP290)	ENSP00000502841.1:n.*5391_*5394del
ENST00000675833.1:c.7988_7991del (CEP290)	ENSP00000502559.1:p.Lys2663SerfsTer2
ENST00000675894.1:n.3525_3528del (CEP290)
ENST00000676074.1:c.*177_*180del (CEP290)	ENSP00000502079.1:n.*177_*180del
ENST00000676181.1:n.7903_7906del (CEP290)
ENST00000676190.1:n.3414_3417del (CEP290)
ENST00000676363.1:n.12946_12949del (CEP290)
XM_011538756.1:c.8090_8093del (CEP290)	XP_011537058.1:p.Lys2697SerfsTer2
XM_011538756.3:c.8090_8093del (CEP290)	XP_011537058.1:p.Lys2697SerfsTer2
XM_011538757.1:c.8090_8093del (CEP290)	XP_011537059.1:p.Lys2697SerfsTer2
XM_011538757.3:c.8090_8093del (CEP290)	XP_011537059.1:p.Lys2697SerfsTer2
XM_011538758.1:c.8087_8090del (CEP290)	XP_011537060.1:p.Lys2696SerfsTer2
XM_011538758.3:c.8087_8090del (CEP290)	XP_011537060.1:p.Lys2696SerfsTer2
XM_011538759.1:c.8081_8084del (CEP290)	XP_011537061.1:p.Lys2694SerfsTer2
XM_011538759.2:c.8081_8084del (CEP290)	XP_011537061.1:p.Lys2694SerfsTer2
XM_011538760.1:c.7967_7970del (CEP290)	XP_011537062.1:p.Lys2656SerfsTer2
XM_011538760.2:c.7967_7970del (CEP290)	XP_011537062.1:p.Lys2656SerfsTer2
XM_011538761.1:c.7925_7928del (CEP290)	XP_011537063.1:p.Lys2642SerfsTer2
XM_011538761.2:c.7925_7928del (CEP290)	XP_011537063.1:p.Lys2642SerfsTer2
XM_011538762.1:c.7322_7325del (CEP290)	XP_011537064.1:p.Lys2441SerfsTer2
XM_011538762.3:c.7322_7325del (CEP290)	XP_011537064.1:p.Lys2441SerfsTer2
XM_011538763.1:c.7229_7232del (CEP290)	XP_011537065.1:p.Lys2410SerfsTer2
XM_011538763.3:c.7229_7232del (CEP290)	XP_011537065.1:p.Lys2410SerfsTer2
XM_011538766.1:c.6551_6554del (CEP290)	XP_011537068.1:p.Lys2184SerfsTer2
XM_011538766.3:c.6551_6554del (CEP290)	XP_011537068.1:p.Lys2184SerfsTer2
XM_017019980.2:c.7958_7961del (CEP290)	XP_016875469.1:p.Lys2653SerfsTer2
XM_017019981.2:c.7916_7919del (CEP290)	XP_016875470.1:p.Lys2639SerfsTer2
XM_017019983.2:c.7208_7211del (CEP290)	XP_016875472.1:p.Lys2403SerfsTer2
XR_001748869.1:n.8351_8354del (CEP290)
XR_001748870.2:n.8186_8189del (CEP290)