Canonical Allele Identifier: CA2796876073

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88089488del , CM000674.2:g.88089488del	GRCh38
NC_000012.11:g.88483265del , CM000674.1:g.88483265del	GRCh37
NC_000012.10:g.87007396del	NCBI36
NG_008417.1:g.57730del
NG_008417.2:g.57730del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.3574del
ENST00000547691.8:c.858del
ENST00000552810.6:c.3574del
ENST00000672414.2:c.*1745del
ENST00000672647.1:n.1934del
ENST00000673058.2:c.3574del
ENST00000674971.1:c.3574del
ENST00000675089.1:c.399del
ENST00000675230.1:c.3553del
ENST00000675408.1:c.3574del
ENST00000675476.1:c.4435del
ENST00000675628.1:n.3801del
ENST00000675794.1:c.*1745del
ENST00000675833.1:c.4342del
ENST00000676074.1:c.3574del
ENST00000676181.1:n.2502del
ENST00000676363.1:n.9300del
ENST00000676448.1:c.*1487del
ENST00000309041.11:c.3580del
ENST00000547691.6:c.754del
ENST00000552810.5:c.3574del
NM_025114.3:c.3574del
XM_011538756.1:c.4435del
XM_011538757.1:c.4435del
XM_011538758.1:c.4435del
XM_011538759.1:c.4435del
XM_011538760.1:c.4435del
XM_011538761.1:c.4435del
XM_011538762.1:c.3667del
XM_011538763.1:c.3574del
XM_011538764.1:c.4435del
XM_011538765.1:c.4435del
XM_011538766.1:c.2896del
XM_011538756.3:c.4435del
XM_011538757.3:c.4435del
XM_011538758.3:c.4435del
XM_011538759.2:c.4435del
XM_011538760.2:c.4435del
XM_011538761.2:c.4435del
XM_011538762.3:c.3667del
XM_011538763.3:c.3574del
XM_011538764.3:c.4435del
XM_011538765.3:c.4435del
XM_011538766.3:c.2896del
XM_017019980.2:c.4435del
XM_017019981.2:c.4435del
XM_017019982.1:c.4435del
XM_017019983.2:c.3553del
XR_001748869.1:n.4779del
XR_001748870.2:n.4779del
NM_025114.4:c.3574del