Canonical Allele Identifier: CA2796874817

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88077341_88077342insA , CM000674.2:g.88077341_88077342insA	GRCh38
NC_000012.11:g.88471118_88471119insA , CM000674.1:g.88471118_88471119insA	GRCh37
NC_000012.10:g.86995249_86995250insA	NCBI36
NG_008417.1:g.69875_69876insT
NG_008417.2:g.69875_69876insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.5589_5590insT	ENSP00000308021.8:p.Lys1864Ter
ENST00000547691.8:c.2873_2874insT
ENST00000552810.6:c.5589_5590insT MANE Select	ENSP00000448012.1:p.Lys1864Ter
ENST00000672414.2:c.*3760_*3761insT	ENSP00000500729.1:n.*3760_*3761insT
ENST00000672647.1:n.3949_3950insT
ENST00000673058.2:c.5589_5590insT	ENSP00000500665.2:p.Lys1864Ter
ENST00000674971.1:c.5589_5590insT	ENSP00000502194.1:p.Lys1864Ter
ENST00000675230.1:c.5568_5569insT	ENSP00000502503.1:p.Lys1857Ter
ENST00000675408.1:c.5589_5590insT	ENSP00000502298.1:p.Lys1864Ter
ENST00000675476.1:c.6450_6451insT	ENSP00000502161.1:p.Lys2151Ter
ENST00000675628.1:n.5816_5817insT
ENST00000675794.1:c.*3760_*3761insT	ENSP00000502841.1:n.*3760_*3761insT
ENST00000675833.1:c.6357_6358insT	ENSP00000502559.1:p.Lys2120Ter
ENST00000675894.1:n.1894_1895insT
ENST00000676074.1:c.5589_5590insT	ENSP00000502079.1:p.Lys1864Ter
ENST00000676181.1:n.4517_4518insT
ENST00000676363.1:n.11315_11316insT
ENST00000676448.1:c.*3502_*3503insT	ENSP00000501987.1:n.*3502_*3503insT
ENST00000309041.11:c.5595_5596insT	ENSP00000308021.7:p.Lys1866Ter
ENST00000547691.6:c.2769_2770insT	ENSP00000446905.1:p.Lys924Ter
ENST00000552810.5:c.5589_5590insT	ENSP00000448012.1:p.Lys1864Ter
NM_025114.3:c.5589_5590insT	NP_079390.3:p.Lys1864Ter
XM_011538756.1:c.6450_6451insT	XP_011537058.1:p.Lys2151Ter
XM_011538757.1:c.6450_6451insT	XP_011537059.1:p.Lys2151Ter
XM_011538758.1:c.6450_6451insT	XP_011537060.1:p.Lys2151Ter
XM_011538759.1:c.6450_6451insT	XP_011537061.1:p.Lys2151Ter
XM_011538760.1:c.6450_6451insT	XP_011537062.1:p.Lys2151Ter
XM_011538761.1:c.6450_6451insT	XP_011537063.1:p.Lys2151Ter
XM_011538762.1:c.5682_5683insT	XP_011537064.1:p.Lys1895Ter
XM_011538763.1:c.5589_5590insT	XP_011537065.1:p.Lys1864Ter
XM_011538764.1:c.6450_6451insT	XP_011537066.1:p.Lys2151Ter
XM_011538765.1:c.6450_6451insT	XP_011537067.1:p.Lys2151Ter
XM_011538766.1:c.4911_4912insT	XP_011537068.1:p.Lys1638Ter
XR_945163.1:n.968-4972_968-4971insA
XM_011538756.3:c.6450_6451insT	XP_011537058.1:p.Lys2151Ter
XM_011538757.3:c.6450_6451insT	XP_011537059.1:p.Lys2151Ter
XM_011538758.3:c.6450_6451insT	XP_011537060.1:p.Lys2151Ter
XM_011538759.2:c.6450_6451insT	XP_011537061.1:p.Lys2151Ter
XM_011538760.2:c.6450_6451insT	XP_011537062.1:p.Lys2151Ter
XM_011538761.2:c.6450_6451insT	XP_011537063.1:p.Lys2151Ter
XM_011538762.3:c.5682_5683insT	XP_011537064.1:p.Lys1895Ter
XM_011538763.3:c.5589_5590insT	XP_011537065.1:p.Lys1864Ter
XM_011538764.3:c.6450_6451insT	XP_011537066.1:p.Lys2151Ter
XM_011538765.3:c.6450_6451insT	XP_011537067.1:p.Lys2151Ter
XM_011538766.3:c.4911_4912insT	XP_011537068.1:p.Lys1638Ter
XM_017019980.2:c.6450_6451insT	XP_016875469.1:p.Lys2151Ter
XM_017019981.2:c.6450_6451insT	XP_016875470.1:p.Lys2151Ter
XM_017019982.1:c.6450_6451insT	XP_016875471.1:p.Lys2151Ter
XM_017019983.2:c.5568_5569insT	XP_016875472.1:p.Lys1857Ter
XR_001748869.1:n.6794_6795insT
XR_001748870.2:n.6794_6795insT
NM_025114.4:c.5589_5590insT MANE Select	NP_079390.3:p.Lys1864Ter