Canonical Allele Identifier: CA2620104254

Gene: CEP290

Linked Data

• gnomAD v4: 12-88077342-G-GAGATCTA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88077342_88077343insAGATCTA , CM000674.2:g.88077342_88077343insAGATCTA	GRCh38
NC_000012.11:g.88471119_88471120insAGATCTA , CM000674.1:g.88471119_88471120insAGATCTA	GRCh37
NC_000012.10:g.86995250_86995251insAGATCTA	NCBI36
NG_008417.1:g.69874_69875insTAGATCT
NG_008417.2:g.69874_69875insTAGATCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.5588_5589insTAGATCT	ENSP00000308021.8:p.Lys1864ArgfsTer8
ENST00000547691.8:c.2872_2873insTAGATCT
ENST00000552810.6:c.5588_5589insTAGATCT MANE Select	ENSP00000448012.1:p.Lys1864ArgfsTer8
ENST00000672414.2:c.*3759_*3760insTAGATCT	ENSP00000500729.1:n.*3759_*3760insTAGATCT
ENST00000672647.1:n.3948_3949insTAGATCT
ENST00000673058.2:c.5588_5589insTAGATCT	ENSP00000500665.2:p.Lys1864ArgfsTer8
ENST00000674971.1:c.5588_5589insTAGATCT	ENSP00000502194.1:p.Lys1864ArgfsTer8
ENST00000675230.1:c.5567_5568insTAGATCT	ENSP00000502503.1:p.Lys1857ArgfsTer8
ENST00000675408.1:c.5588_5589insTAGATCT	ENSP00000502298.1:p.Lys1864ArgfsTer8
ENST00000675476.1:c.6449_6450insTAGATCT	ENSP00000502161.1:p.Lys2151ArgfsTer8
ENST00000675628.1:n.5815_5816insTAGATCT
ENST00000675794.1:c.*3759_*3760insTAGATCT	ENSP00000502841.1:n.*3759_*3760insTAGATCT
ENST00000675833.1:c.6356_6357insTAGATCT	ENSP00000502559.1:p.Lys2120ArgfsTer8
ENST00000675894.1:n.1893_1894insTAGATCT
ENST00000676074.1:c.5588_5589insTAGATCT	ENSP00000502079.1:p.Lys1864ArgfsTer8
ENST00000676181.1:n.4516_4517insTAGATCT
ENST00000676363.1:n.11314_11315insTAGATCT
ENST00000676448.1:c.*3501_*3502insTAGATCT	ENSP00000501987.1:n.*3501_*3502insTAGATCT
ENST00000309041.11:c.5594_5595insTAGATCT	ENSP00000308021.7:p.Lys1866ArgfsTer8
ENST00000547691.6:c.2768_2769insTAGATCT	ENSP00000446905.1:p.Lys924ArgfsTer8
ENST00000552810.5:c.5588_5589insTAGATCT	ENSP00000448012.1:p.Lys1864ArgfsTer8
NM_025114.3:c.5588_5589insTAGATCT	NP_079390.3:p.Lys1864ArgfsTer8
XM_011538756.1:c.6449_6450insTAGATCT	XP_011537058.1:p.Lys2151ArgfsTer8
XM_011538757.1:c.6449_6450insTAGATCT	XP_011537059.1:p.Lys2151ArgfsTer8
XM_011538758.1:c.6449_6450insTAGATCT	XP_011537060.1:p.Lys2151ArgfsTer8
XM_011538759.1:c.6449_6450insTAGATCT	XP_011537061.1:p.Lys2151ArgfsTer8
XM_011538760.1:c.6449_6450insTAGATCT	XP_011537062.1:p.Lys2151ArgfsTer8
XM_011538761.1:c.6449_6450insTAGATCT	XP_011537063.1:p.Lys2151ArgfsTer8
XM_011538762.1:c.5681_5682insTAGATCT	XP_011537064.1:p.Lys1895ArgfsTer8
XM_011538763.1:c.5588_5589insTAGATCT	XP_011537065.1:p.Lys1864ArgfsTer8
XM_011538764.1:c.6449_6450insTAGATCT	XP_011537066.1:p.Lys2151ArgfsTer8
XM_011538765.1:c.6449_6450insTAGATCT	XP_011537067.1:p.Lys2151ArgfsTer8
XM_011538766.1:c.4910_4911insTAGATCT	XP_011537068.1:p.Lys1638ArgfsTer8
XR_945163.1:n.968-4971_968-4970insAGATCTA
XM_011538756.3:c.6449_6450insTAGATCT	XP_011537058.1:p.Lys2151ArgfsTer8
XM_011538757.3:c.6449_6450insTAGATCT	XP_011537059.1:p.Lys2151ArgfsTer8
XM_011538758.3:c.6449_6450insTAGATCT	XP_011537060.1:p.Lys2151ArgfsTer8
XM_011538759.2:c.6449_6450insTAGATCT	XP_011537061.1:p.Lys2151ArgfsTer8
XM_011538760.2:c.6449_6450insTAGATCT	XP_011537062.1:p.Lys2151ArgfsTer8
XM_011538761.2:c.6449_6450insTAGATCT	XP_011537063.1:p.Lys2151ArgfsTer8
XM_011538762.3:c.5681_5682insTAGATCT	XP_011537064.1:p.Lys1895ArgfsTer8
XM_011538763.3:c.5588_5589insTAGATCT	XP_011537065.1:p.Lys1864ArgfsTer8
XM_011538764.3:c.6449_6450insTAGATCT	XP_011537066.1:p.Lys2151ArgfsTer8
XM_011538765.3:c.6449_6450insTAGATCT	XP_011537067.1:p.Lys2151ArgfsTer8
XM_011538766.3:c.4910_4911insTAGATCT	XP_011537068.1:p.Lys1638ArgfsTer8
XM_017019980.2:c.6449_6450insTAGATCT	XP_016875469.1:p.Lys2151ArgfsTer8
XM_017019981.2:c.6449_6450insTAGATCT	XP_016875470.1:p.Lys2151ArgfsTer8
XM_017019982.1:c.6449_6450insTAGATCT	XP_016875471.1:p.Lys2151ArgfsTer8
XM_017019983.2:c.5567_5568insTAGATCT	XP_016875472.1:p.Lys1857ArgfsTer8
XR_001748869.1:n.6793_6794insTAGATCT
XR_001748870.2:n.6793_6794insTAGATCT
NM_025114.4:c.5588_5589insTAGATCT MANE Select	NP_079390.3:p.Lys1864ArgfsTer8