Canonical Allele Identifier: CA2499221879

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88111292_88111293del , CM000674.2:g.88111292_88111293del	GRCh38
NC_000012.11:g.88505069_88505070del , CM000674.1:g.88505069_88505070del	GRCh37
NC_000012.10:g.87029200_87029201del	NCBI36
NG_008417.1:g.35927_35928del
NG_008417.2:g.35927_35928del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.2279_2280del	ENSP00000308021.8:p.Phe760Ter
ENST00000547926.7:c.*188_*189del	ENSP00000448573.3:n.*188_*189del
ENST00000552810.6:c.2279_2280del MANE Select	ENSP00000448012.1:p.Phe760Ter
ENST00000672414.2:c.*450_*451del	ENSP00000500729.1:n.*450_*451del
ENST00000673058.2:c.2279_2280del	ENSP00000500665.2:p.Phe760Ter
ENST00000674971.1:c.2279_2280del	ENSP00000502194.1:p.Phe760Ter
ENST00000675230.1:c.2258_2259del	ENSP00000502503.1:p.Phe753Ter
ENST00000675408.1:c.2279_2280del	ENSP00000502298.1:p.Phe760Ter
ENST00000675476.1:c.3140_3141del	ENSP00000502161.1:p.Phe1047Ter
ENST00000675628.1:n.2506_2507del
ENST00000675794.1:c.*450_*451del	ENSP00000502841.1:n.*450_*451del
ENST00000675833.1:c.3047_3048del	ENSP00000502559.1:p.Phe1016Ter
ENST00000676074.1:c.2279_2280del	ENSP00000502079.1:p.Phe760Ter
ENST00000676363.1:n.4342_4343del
ENST00000676448.1:c.*192_*193del	ENSP00000501987.1:n.*192_*193del
ENST00000309041.11:c.2285_2286del	ENSP00000308021.7:p.Phe762Ter
ENST00000397838.7:c.2285_2286del	ENSP00000380938.4:p.Phe762Ter
ENST00000547926.6:c.2034_2035del	ENSP00000448573.2:n.2034_2035del
ENST00000552810.5:c.2279_2280del	ENSP00000448012.1:p.Phe760Ter
ENST00000604024.5:c.1538_1539del	ENSP00000473863.1:p.Phe513Ter
NM_025114.3:c.2279_2280del	NP_079390.3:p.Phe760Ter
XM_011538756.1:c.3140_3141del	XP_011537058.1:p.Phe1047Ter
XM_011538757.1:c.3140_3141del	XP_011537059.1:p.Phe1047Ter
XM_011538758.1:c.3140_3141del	XP_011537060.1:p.Phe1047Ter
XM_011538759.1:c.3140_3141del	XP_011537061.1:p.Phe1047Ter
XM_011538760.1:c.3140_3141del	XP_011537062.1:p.Phe1047Ter
XM_011538761.1:c.3140_3141del	XP_011537063.1:p.Phe1047Ter
XM_011538762.1:c.2372_2373del	XP_011537064.1:p.Phe791Ter
XM_011538763.1:c.2279_2280del	XP_011537065.1:p.Phe760Ter
XM_011538764.1:c.3140_3141del	XP_011537066.1:p.Phe1047Ter
XM_011538765.1:c.3140_3141del	XP_011537067.1:p.Phe1047Ter
XM_011538766.1:c.1601_1602del	XP_011537068.1:p.Phe534Ter
XM_011538756.3:c.3140_3141del	XP_011537058.1:p.Phe1047Ter
XM_011538757.3:c.3140_3141del	XP_011537059.1:p.Phe1047Ter
XM_011538758.3:c.3140_3141del	XP_011537060.1:p.Phe1047Ter
XM_011538759.2:c.3140_3141del	XP_011537061.1:p.Phe1047Ter
XM_011538760.2:c.3140_3141del	XP_011537062.1:p.Phe1047Ter
XM_011538761.2:c.3140_3141del	XP_011537063.1:p.Phe1047Ter
XM_011538762.3:c.2372_2373del	XP_011537064.1:p.Phe791Ter
XM_011538763.3:c.2279_2280del	XP_011537065.1:p.Phe760Ter
XM_011538764.3:c.3140_3141del	XP_011537066.1:p.Phe1047Ter
XM_011538765.3:c.3140_3141del	XP_011537067.1:p.Phe1047Ter
XM_011538766.3:c.1601_1602del	XP_011537068.1:p.Phe534Ter
XM_017019980.2:c.3140_3141del	XP_016875469.1:p.Phe1047Ter
XM_017019981.2:c.3140_3141del	XP_016875470.1:p.Phe1047Ter
XM_017019982.1:c.3140_3141del	XP_016875471.1:p.Phe1047Ter
XM_017019983.2:c.2258_2259del	XP_016875472.1:p.Phe753Ter
XR_001748869.1:n.3484_3485del
XR_001748870.2:n.3484_3485del
NM_025114.4:c.2279_2280del MANE Select	NP_079390.3:p.Phe760Ter