Canonical Allele Identifier: CA606450528
Gene: CEP290 HGNC NCBI

Linked Data

dbSNP Id: rs1565796718

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88062774_88062780del , CM000674.2:g.88062774_88062780del GRCh38
NC_000012.11:g.88456551_88456557del , CM000674.1:g.88456551_88456557del GRCh37
NC_000012.10:g.86980682_86980688del NCBI36
NG_008417.1:g.84439_84445del
NG_008417.2:g.84439_84445del

Transcript Alleles

HGVS Amino-acid Change
ENST00000309041.12:c.6280_6286del
ENST00000547691.8:c.3555_3561del
ENST00000552810.6:c.6271_6277del
ENST00000672414.2:c.*4442_*4448del
ENST00000672647.1:n.4631_4637del
ENST00000673058.2:c.6271_6277del
ENST00000674889.1:n.3224_3230del
ENST00000674971.1:c.6271_6277del
ENST00000675230.1:c.6250_6256del
ENST00000675408.1:c.6271_6277del
ENST00000675476.1:c.7132_7138del
ENST00000675628.1:n.6498_6504del
ENST00000675794.1:c.*4442_*4448del
ENST00000675833.1:c.7039_7045del
ENST00000675894.1:n.2576_2582del
ENST00000676074.1:c.6271_6277del
ENST00000676181.1:n.5199_5205del
ENST00000676190.1:n.710_716del
ENST00000676363.1:n.11997_12003del
ENST00000309041.11:c.6277_6283del
ENST00000547691.6:c.3451_3457del
ENST00000552810.5:c.6271_6277del
NM_025114.3:c.6271_6277del
XM_011538756.1:c.7141_7147del
XM_011538757.1:c.7141_7147del
XM_011538758.1:c.7138_7144del
XM_011538759.1:c.7132_7138del
XM_011538760.1:c.7141_7147del
XM_011538761.1:c.7141_7147del
XM_011538762.1:c.6373_6379del
XM_011538763.1:c.6280_6286del
XM_011538766.1:c.5602_5608del
XR_945163.1:n.967+5754_967+5760del
XM_011538756.3:c.7141_7147del
XM_011538757.3:c.7141_7147del
XM_011538758.3:c.7138_7144del
XM_011538759.2:c.7132_7138del
XM_011538760.2:c.7141_7147del
XM_011538761.2:c.7141_7147del
XM_011538762.3:c.6373_6379del
XM_011538763.3:c.6280_6286del
XM_011538766.3:c.5602_5608del
XM_017019980.2:c.7132_7138del
XM_017019981.2:c.7132_7138del
XM_017019982.1:c.7141_7147del
XM_017019983.2:c.6259_6265del
XR_001748869.1:n.7476_7482del
XR_001748870.2:n.7476_7482del
NM_025114.4:c.6271_6277del