Canonical Allele Identifier: CA915946672
Gene: CEP290 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88077703del , CM000674.2:g.88077703del GRCh38
NC_000012.11:g.88471480del , CM000674.1:g.88471480del GRCh37
NC_000012.10:g.86995611del NCBI36
NG_008417.1:g.69514del
NG_008417.2:g.69514del

Transcript Alleles

HGVS Amino-acid Change
NM_025114.4:c.5580del MANE Select NP_079390.3:p.Leu1861TyrfsTer6
ENST00000552810.6:c.5580del MANE Select ENSP00000448012.1:p.Leu1861TyrfsTer6
NM_025114.3:c.5580del NP_079390.3:p.Leu1861TyrfsTer6
ENST00000309041.11:c.5586del ENSP00000308021.7:p.Leu1863TyrfsTer6
ENST00000309041.12:c.5580del ENSP00000308021.8:p.Leu1861TyrfsTer6
ENST00000547691.6:c.2760del ENSP00000446905.1:p.Leu921TyrfsTer6
ENST00000547691.8:c.2864del
ENST00000552810.5:c.5580del ENSP00000448012.1:p.Leu1861TyrfsTer6
ENST00000672414.2:c.*3751del ENSP00000500729.1:n.*3751del
ENST00000672647.1:n.3940del
ENST00000673058.2:c.5580del ENSP00000500665.2:p.Leu1861TyrfsTer6
ENST00000674971.1:c.5580del ENSP00000502194.1:p.Leu1861TyrfsTer6
ENST00000675230.1:c.5559del ENSP00000502503.1:p.Leu1854TyrfsTer6
ENST00000675408.1:c.5580del ENSP00000502298.1:p.Leu1861TyrfsTer6
ENST00000675476.1:c.6441del ENSP00000502161.1:p.Leu2148TyrfsTer6
ENST00000675628.1:n.5807del
ENST00000675794.1:c.*3751del ENSP00000502841.1:n.*3751del
ENST00000675833.1:c.6348del ENSP00000502559.1:p.Leu2117TyrfsTer6
ENST00000675894.1:n.1885del
ENST00000676074.1:c.5580del ENSP00000502079.1:p.Leu1861TyrfsTer6
ENST00000676181.1:n.4508del
ENST00000676363.1:n.11306del
ENST00000676448.1:c.*3493del ENSP00000501987.1:n.*3493del
XM_011538756.1:c.6441del XP_011537058.1:p.Leu2148TyrfsTer6
XM_011538756.3:c.6441del XP_011537058.1:p.Leu2148TyrfsTer6
XM_011538757.1:c.6441del XP_011537059.1:p.Leu2148TyrfsTer6
XM_011538757.3:c.6441del XP_011537059.1:p.Leu2148TyrfsTer6
XM_011538758.1:c.6441del XP_011537060.1:p.Leu2148TyrfsTer6
XM_011538758.3:c.6441del XP_011537060.1:p.Leu2148TyrfsTer6
XM_011538759.1:c.6441del XP_011537061.1:p.Leu2148TyrfsTer6
XM_011538759.2:c.6441del XP_011537061.1:p.Leu2148TyrfsTer6
XM_011538760.1:c.6441del XP_011537062.1:p.Leu2148TyrfsTer6
XM_011538760.2:c.6441del XP_011537062.1:p.Leu2148TyrfsTer6
XM_011538761.1:c.6441del XP_011537063.1:p.Leu2148TyrfsTer6
XM_011538761.2:c.6441del XP_011537063.1:p.Leu2148TyrfsTer6
XM_011538762.1:c.5673del XP_011537064.1:p.Leu1892TyrfsTer6
XM_011538762.3:c.5673del XP_011537064.1:p.Leu1892TyrfsTer6
XM_011538763.1:c.5580del XP_011537065.1:p.Leu1861TyrfsTer6
XM_011538763.3:c.5580del XP_011537065.1:p.Leu1861TyrfsTer6
XM_011538764.1:c.6441del XP_011537066.1:p.Leu2148TyrfsTer6
XM_011538764.3:c.6441del XP_011537066.1:p.Leu2148TyrfsTer6
XM_011538765.1:c.6441del XP_011537067.1:p.Leu2148TyrfsTer6
XM_011538765.3:c.6441del XP_011537067.1:p.Leu2148TyrfsTer6
XM_011538766.1:c.4902del XP_011537068.1:p.Leu1635TyrfsTer6
XM_011538766.3:c.4902del XP_011537068.1:p.Leu1635TyrfsTer6
XM_017019980.2:c.6441del XP_016875469.1:p.Leu2148TyrfsTer6
XM_017019981.2:c.6441del XP_016875470.1:p.Leu2148TyrfsTer6
XM_017019982.1:c.6441del XP_016875471.1:p.Leu2148TyrfsTer6
XM_017019983.2:c.5559del XP_016875472.1:p.Leu1854TyrfsTer6
XR_001748869.1:n.6785del
XR_001748870.2:n.6785del
XR_945163.1:n.968-4610del