Canonical Allele Identifier: CA2580086698

Gene: CEP290 RLIG1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88049265_88049266delinsCT , CM000674.2:g.88049265_88049266delinsCT	GRCh38
NC_000012.11:g.88443042_88443043delinsCT , CM000674.1:g.88443042_88443043delinsCT	GRCh37
NC_000012.10:g.86967173_86967174delinsCT	NCBI36
NG_008417.1:g.97951_97952delinsAG
NG_008417.2:g.97951_97952delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.7367_7368delinsAG (CEP290)	ENSP00000308021.8:p.Gly2456Glu
ENST00000356891.4:c.*843_*844delinsCT (RLIG1) MANE Select	ENSP00000349358.3:n.*843_*844delinsCT
ENST00000547691.8:c.4327_4328delinsAG (CEP290)
ENST00000552810.6:c.7358_7359delinsAG (CEP290) MANE Select	ENSP00000448012.1:p.Gly2453Glu
ENST00000671777.2:n.1137_1138delinsAG (CEP290)
ENST00000672414.2:c.*5364_*5365delinsAG (CEP290)	ENSP00000500729.1:n.*5364_*5365delinsAG
ENST00000672647.1:n.5718_5719delinsAG (CEP290)
ENST00000673058.2:c.7235_7236delinsAG (CEP290)	ENSP00000500665.2:p.Gly2412Glu
ENST00000674712.1:n.885_886delinsAG (CEP290)
ENST00000674889.1:n.4311_4312delinsAG (CEP290)
ENST00000674971.1:c.*315_*316delinsAG (CEP290)	ENSP00000502194.1:n.*315_*316delinsAG
ENST00000675230.1:c.7337_7338delinsAG (CEP290)	ENSP00000502503.1:p.Gly2446Glu
ENST00000675408.1:c.7193_7194delinsAG (CEP290)	ENSP00000502298.1:p.Gly2398Glu
ENST00000675476.1:c.8219_8220delinsAG (CEP290)	ENSP00000502161.1:p.Gly2740Glu
ENST00000675628.1:n.9340_9341delinsAG (CEP290)
ENST00000675794.1:c.*5529_*5530delinsAG (CEP290)	ENSP00000502841.1:n.*5529_*5530delinsAG
ENST00000675833.1:c.8126_8127delinsAG (CEP290)	ENSP00000502559.1:p.Gly2709Glu
ENST00000675894.1:n.3663_3664delinsAG (CEP290)
ENST00000676074.1:c.*315_*316delinsAG (CEP290)	ENSP00000502079.1:n.*315_*316delinsAG
ENST00000676181.1:n.8041_8042delinsAG (CEP290)
ENST00000676190.1:n.3552_3553delinsAG (CEP290)
ENST00000676363.1:n.13084_13085delinsAG (CEP290)
ENST00000309041.11:c.7364_7365delinsAG (CEP290)	ENSP00000308021.7:p.Gly2455Glu
ENST00000356891.3:c.*843_*844delinsCT (RLIG1)	ENSP00000349358.3:n.*843_*844delinsCT
ENST00000547691.6:c.4538_4539delinsAG (CEP290)	ENSP00000446905.1:p.Gly1513Glu
ENST00000550333.5:c.*1586_*1587delinsCT (RLIG1)	ENSP00000448194.1:n.*1586_*1587delinsCT
ENST00000552810.5:c.7358_7359delinsAG (CEP290)	ENSP00000448012.1:p.Gly2453Glu
NM_001009894.2:c.*843_*844delinsCT (RLIG1)	NP_001009894.2:n.*843_*844delinsCT
NM_025114.3:c.7358_7359delinsAG (CEP290)	NP_079390.3:p.Gly2453Glu
XM_011538756.1:c.8228_8229delinsAG (CEP290)	XP_011537058.1:p.Gly2743Glu
XM_011538757.1:c.8228_8229delinsAG (CEP290)	XP_011537059.1:p.Gly2743Glu
XM_011538758.1:c.8225_8226delinsAG (CEP290)	XP_011537060.1:p.Gly2742Glu
XM_011538759.1:c.8219_8220delinsAG (CEP290)	XP_011537061.1:p.Gly2740Glu
XM_011538760.1:c.8105_8106delinsAG (CEP290)	XP_011537062.1:p.Gly2702Glu
XM_011538761.1:c.8063_8064delinsAG (CEP290)	XP_011537063.1:p.Gly2688Glu
XM_011538762.1:c.7460_7461delinsAG (CEP290)	XP_011537064.1:p.Gly2487Glu
XM_011538763.1:c.7367_7368delinsAG (CEP290)	XP_011537065.1:p.Gly2456Glu
XM_011538766.1:c.6689_6690delinsAG (CEP290)	XP_011537068.1:p.Gly2230Glu
XM_011538756.3:c.8228_8229delinsAG (CEP290)	XP_011537058.1:p.Gly2743Glu
XM_011538757.3:c.8228_8229delinsAG (CEP290)	XP_011537059.1:p.Gly2743Glu
XM_011538758.3:c.8225_8226delinsAG (CEP290)	XP_011537060.1:p.Gly2742Glu
XM_011538759.2:c.8219_8220delinsAG (CEP290)	XP_011537061.1:p.Gly2740Glu
XM_011538760.2:c.8105_8106delinsAG (CEP290)	XP_011537062.1:p.Gly2702Glu
XM_011538761.2:c.8063_8064delinsAG (CEP290)	XP_011537063.1:p.Gly2688Glu
XM_011538762.3:c.7460_7461delinsAG (CEP290)	XP_011537064.1:p.Gly2487Glu
XM_011538763.3:c.7367_7368delinsAG (CEP290)	XP_011537065.1:p.Gly2456Glu
XM_011538766.3:c.6689_6690delinsAG (CEP290)	XP_011537068.1:p.Gly2230Glu
XM_017019980.2:c.8096_8097delinsAG (CEP290)	XP_016875469.1:p.Gly2699Glu
XM_017019981.2:c.8054_8055delinsAG (CEP290)	XP_016875470.1:p.Gly2685Glu
XM_017019983.2:c.7346_7347delinsAG (CEP290)	XP_016875472.1:p.Gly2449Glu
NM_001009894.3:c.*843_*844delinsCT (RLIG1) MANE Select	NP_001009894.2:n.*843_*844delinsCT
NM_025114.4:c.7358_7359delinsAG (CEP290) MANE Select	NP_079390.3:p.Gly2453Glu