Canonical Allele Identifier: CA2052914311

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88102796_88102811delinsAAATGGCTAATTTCAC , CM000674.2:g.88102796_88102811delinsAAATGGCTAATTTCAC	GRCh38
NC_000012.11:g.88496573_88496588delinsAAATGGCTAATTTCAC , CM000674.1:g.88496573_88496588delinsAAATGGCTAATTTCAC	GRCh37
NC_000012.10:g.87020704_87020719delinsAAATGGCTAATTTCAC	NCBI36
NG_008417.1:g.44406_44421delinsGTGAAATTAGCCATTT
NG_008417.2:g.44406_44421delinsGTGAAATTAGCCATTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000309041.12:c.2991+27_2991+42delinsGTGAAATTAGCCATTT	ENSP00000308021.8:n.2991+27_2991+42delins...
ENST00000547691.8:c.275+27_275+42delinsGTGAAATTAGCCATTT
ENST00000552810.6:c.2991+27_2991+42delinsGTGAAATTAGCCATTT MANE Select	ENSP00000448012.1:n.2991+27_2991+42delins...
ENST00000672414.2:c.*1162+27_*1162+42delinsGTGAAATTAGCCATTT	ENSP00000500729.1:n.*1162+27_*1162+42deli...
ENST00000672647.1:n.1351+27_1351+42delinsGTGAAATTAGCCATTT
ENST00000673058.2:c.2991+27_2991+42delinsGTGAAATTAGCCATTT	ENSP00000500665.2:n.2991+27_2991+42delins...
ENST00000674971.1:c.2991+27_2991+42delinsGTGAAATTAGCCATTT	ENSP00000502194.1:n.2991+27_2991+42delins...
ENST00000675089.1:c.174+27_174+42delinsGTGAAATTAGCCATTT	ENSP00000501582.1:n.174+27_174+42delinsGT...
ENST00000675230.1:c.2970+27_2970+42delinsGTGAAATTAGCCATTT	ENSP00000502503.1:n.2970+27_2970+42delins...
ENST00000675408.1:c.2991+27_2991+42delinsGTGAAATTAGCCATTT	ENSP00000502298.1:n.2991+27_2991+42delins...
ENST00000675476.1:c.3852+27_3852+42delinsGTGAAATTAGCCATTT	ENSP00000502161.1:n.3852+27_3852+42delins...
ENST00000675628.1:n.3218+27_3218+42delinsGTGAAATTAGCCATTT
ENST00000675794.1:c.*1162+27_*1162+42delinsGTGAAATTAGCCATTT	ENSP00000502841.1:n.*1162+27_*1162+42deli...
ENST00000675833.1:c.3759+27_3759+42delinsGTGAAATTAGCCATTT	ENSP00000502559.1:n.3759+27_3759+42delins...
ENST00000676074.1:c.2991+27_2991+42delinsGTGAAATTAGCCATTT	ENSP00000502079.1:n.2991+27_2991+42delins...
ENST00000676181.1:n.679+27_679+42delinsGTGAAATTAGCCATTT
ENST00000676363.1:n.8717+27_8717+42delinsGTGAAATTAGCCATTT
ENST00000676448.1:c.*904+27_*904+42delinsGTGAAATTAGCCATTT	ENSP00000501987.1:n.*904+27_*904+42delins...
ENST00000309041.11:c.2997+27_2997+42delinsGTGAAATTAGCCATTT	ENSP00000308021.7:n.2997+27_2997+42delins...
ENST00000547691.6:c.171+27_171+42delinsGTGAAATTAGCCATTT	ENSP00000446905.1:n.171+27_171+42delinsGT...
ENST00000552810.5:c.2991+27_2991+42delinsGTGAAATTAGCCATTT	ENSP00000448012.1:n.2991+27_2991+42delins...
ENST00000604024.5:c.2250+27_2250+42delinsGTGAAATTAGCCATTT	ENSP00000473863.1:n.2250+27_2250+42delins...
NM_025114.3:c.2991+27_2991+42delinsGTGAAATTAGCCATTT	NP_079390.3:n.2991+27_2991+42delinsGTGAAA...
XM_011538756.1:c.3852+27_3852+42delinsGTGAAATTAGCCATTT	XP_011537058.1:n.3852+27_3852+42delinsGTG...
XM_011538757.1:c.3852+27_3852+42delinsGTGAAATTAGCCATTT	XP_011537059.1:n.3852+27_3852+42delinsGTG...
XM_011538758.1:c.3852+27_3852+42delinsGTGAAATTAGCCATTT	XP_011537060.1:n.3852+27_3852+42delinsGTG...
XM_011538759.1:c.3852+27_3852+42delinsGTGAAATTAGCCATTT	XP_011537061.1:n.3852+27_3852+42delinsGTG...
XM_011538760.1:c.3852+27_3852+42delinsGTGAAATTAGCCATTT	XP_011537062.1:n.3852+27_3852+42delinsGTG...
XM_011538761.1:c.3852+27_3852+42delinsGTGAAATTAGCCATTT	XP_011537063.1:n.3852+27_3852+42delinsGTG...
XM_011538762.1:c.3084+27_3084+42delinsGTGAAATTAGCCATTT	XP_011537064.1:n.3084+27_3084+42delinsGTG...
XM_011538763.1:c.2991+27_2991+42delinsGTGAAATTAGCCATTT	XP_011537065.1:n.2991+27_2991+42delinsGTG...
XM_011538764.1:c.3852+27_3852+42delinsGTGAAATTAGCCATTT	XP_011537066.1:n.3852+27_3852+42delinsGTG...
XM_011538765.1:c.3852+27_3852+42delinsGTGAAATTAGCCATTT	XP_011537067.1:n.3852+27_3852+42delinsGTG...
XM_011538766.1:c.2313+27_2313+42delinsGTGAAATTAGCCATTT	XP_011537068.1:n.2313+27_2313+42delinsGTG...
XM_011538756.3:c.3852+27_3852+42delinsGTGAAATTAGCCATTT	XP_011537058.1:n.3852+27_3852+42delinsGTG...
XM_011538757.3:c.3852+27_3852+42delinsGTGAAATTAGCCATTT	XP_011537059.1:n.3852+27_3852+42delinsGTG...
XM_011538758.3:c.3852+27_3852+42delinsGTGAAATTAGCCATTT	XP_011537060.1:n.3852+27_3852+42delinsGTG...
XM_011538759.2:c.3852+27_3852+42delinsGTGAAATTAGCCATTT	XP_011537061.1:n.3852+27_3852+42delinsGTG...
XM_011538760.2:c.3852+27_3852+42delinsGTGAAATTAGCCATTT	XP_011537062.1:n.3852+27_3852+42delinsGTG...
XM_011538761.2:c.3852+27_3852+42delinsGTGAAATTAGCCATTT	XP_011537063.1:n.3852+27_3852+42delinsGTG...
XM_011538762.3:c.3084+27_3084+42delinsGTGAAATTAGCCATTT	XP_011537064.1:n.3084+27_3084+42delinsGTG...
XM_011538763.3:c.2991+27_2991+42delinsGTGAAATTAGCCATTT	XP_011537065.1:n.2991+27_2991+42delinsGTG...
XM_011538764.3:c.3852+27_3852+42delinsGTGAAATTAGCCATTT	XP_011537066.1:n.3852+27_3852+42delinsGTG...
XM_011538765.3:c.3852+27_3852+42delinsGTGAAATTAGCCATTT	XP_011537067.1:n.3852+27_3852+42delinsGTG...
XM_011538766.3:c.2313+27_2313+42delinsGTGAAATTAGCCATTT	XP_011537068.1:n.2313+27_2313+42delinsGTG...
XM_017019980.2:c.3852+27_3852+42delinsGTGAAATTAGCCATTT	XP_016875469.1:n.3852+27_3852+42delinsGTG...
XM_017019981.2:c.3852+27_3852+42delinsGTGAAATTAGCCATTT	XP_016875470.1:n.3852+27_3852+42delinsGTG...
XM_017019982.1:c.3852+27_3852+42delinsGTGAAATTAGCCATTT	XP_016875471.1:n.3852+27_3852+42delinsGTG...
XM_017019983.2:c.2970+27_2970+42delinsGTGAAATTAGCCATTT	XP_016875472.1:n.2970+27_2970+42delinsGTG...
XR_001748869.1:n.4196+27_4196+42delinsGTGAAATTAGCCATTT
XR_001748870.2:n.4196+27_4196+42delinsGTGAAATTAGCCATTT
NM_025114.4:c.2991+27_2991+42delinsGTGAAATTAGCCATTT MANE Select	NP_079390.3:n.2991+27_2991+42delinsGTGAAA...