Canonical Allele Identifier: CA2052907549

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88062774_88062784delinsTGATTCTGAAA , CM000674.2:g.88062774_88062784delinsTGATTCTGAAA	GRCh38
NC_000012.11:g.88456551_88456561delinsTGATTCTGAAA , CM000674.1:g.88456551_88456561delinsTGATTCTGAAA	GRCh37
NC_000012.10:g.86980682_86980692delinsTGATTCTGAAA	NCBI36
NG_008417.1:g.84433_84443delinsTTTCAGAATCA
NG_008417.2:g.84433_84443delinsTTTCAGAATCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.6280-6_6284delinsTTTCAGAATCA
ENST00000547691.8:c.3555-6_3559delinsTTTCAGAATCA
ENST00000552810.6:c.6271-6_6275delinsTTTCAGAATCA
ENST00000672414.2:c.*4442-6_*4446delinsTTTCAGAATCA
ENST00000672647.1:n.4631-6_4635delinsTTTCAGAATCA
ENST00000673058.2:c.6271-6_6275delinsTTTCAGAATCA
ENST00000674889.1:n.3224-6_3228delinsTTTCAGAATCA
ENST00000674971.1:c.6271-6_6275delinsTTTCAGAATCA
ENST00000675230.1:c.6250-6_6254delinsTTTCAGAATCA
ENST00000675408.1:c.6271-6_6275delinsTTTCAGAATCA
ENST00000675476.1:c.7132-6_7136delinsTTTCAGAATCA
ENST00000675628.1:n.6498-6_6502delinsTTTCAGAATCA
ENST00000675794.1:c.*4442-6_*4446delinsTTTCAGAATCA
ENST00000675833.1:c.7039-6_7043delinsTTTCAGAATCA
ENST00000675894.1:n.2576-6_2580delinsTTTCAGAATCA
ENST00000676074.1:c.6271-6_6275delinsTTTCAGAATCA
ENST00000676181.1:n.5199-6_5203delinsTTTCAGAATCA
ENST00000676190.1:n.710-6_714delinsTTTCAGAATCA
ENST00000676363.1:n.11997-6_12001delinsTTTCAGAATCA
ENST00000309041.11:c.6277-6_6281delinsTTTCAGAATCA
ENST00000547691.6:c.3451-6_3455delinsTTTCAGAATCA
ENST00000552810.5:c.6271-6_6275delinsTTTCAGAATCA
NM_025114.3:c.6271-6_6275delinsTTTCAGAATCA
XM_011538756.1:c.7141-6_7145delinsTTTCAGAATCA
XM_011538757.1:c.7141-6_7145delinsTTTCAGAATCA
XM_011538758.1:c.7138-6_7142delinsTTTCAGAATCA
XM_011538759.1:c.7132-6_7136delinsTTTCAGAATCA
XM_011538760.1:c.7141-6_7145delinsTTTCAGAATCA
XM_011538761.1:c.7141-6_7145delinsTTTCAGAATCA
XM_011538762.1:c.6373-6_6377delinsTTTCAGAATCA
XM_011538763.1:c.6280-6_6284delinsTTTCAGAATCA
XM_011538766.1:c.5602-6_5606delinsTTTCAGAATCA
XR_945163.1:n.967+5754_967+5764delinsTGATTCTGAAA
XM_011538756.3:c.7141-6_7145delinsTTTCAGAATCA
XM_011538757.3:c.7141-6_7145delinsTTTCAGAATCA
XM_011538758.3:c.7138-6_7142delinsTTTCAGAATCA
XM_011538759.2:c.7132-6_7136delinsTTTCAGAATCA
XM_011538760.2:c.7141-6_7145delinsTTTCAGAATCA
XM_011538761.2:c.7141-6_7145delinsTTTCAGAATCA
XM_011538762.3:c.6373-6_6377delinsTTTCAGAATCA
XM_011538763.3:c.6280-6_6284delinsTTTCAGAATCA
XM_011538766.3:c.5602-6_5606delinsTTTCAGAATCA
XM_017019980.2:c.7132-6_7136delinsTTTCAGAATCA
XM_017019981.2:c.7132-6_7136delinsTTTCAGAATCA
XM_017019982.1:c.7141-6_7145delinsTTTCAGAATCA
XM_017019983.2:c.6259-6_6263delinsTTTCAGAATCA
XR_001748869.1:n.7476-6_7480delinsTTTCAGAATCA
XR_001748870.2:n.7476-6_7480delinsTTTCAGAATCA
NM_025114.4:c.6271-6_6275delinsTTTCAGAATCA