Canonical Allele Identifier: CA6711895
Community Standard Title: NM_025114.4(CEP290):c.4661_4663del (p.Glu1554del)
Gene: CEP290 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88084633_88084635del , CM000674.2:g.88084633_88084635del GRCh38
NC_000012.11:g.88478410_88478412del , CM000674.1:g.88478410_88478412del GRCh37
NC_000012.10:g.87002541_87002543del NCBI36
NG_008417.1:g.62588_62590del
NG_008417.2:g.62588_62590del

Transcript Alleles

HGVS Amino-acid Change
NM_025114.4:c.4661_4663del MANE Select NP_079390.3:p.Glu1554del
ENST00000552810.6:c.4661_4663del MANE Select ENSP00000448012.1:p.Glu1554del
NM_025114.3:c.4661_4663del NP_079390.3:p.Glu1554del
ENST00000309041.11:c.4667_4669del ENSP00000308021.7:p.Glu1556del
ENST00000309041.12:c.4661_4663del ENSP00000308021.8:p.Glu1554del
ENST00000547691.6:c.1841_1843del ENSP00000446905.1:p.Glu614del
ENST00000547691.8:c.1945_1947del
ENST00000552810.5:c.4661_4663del ENSP00000448012.1:p.Glu1554del
ENST00000672414.2:c.*2832_*2834del ENSP00000500729.1:n.*2832_*2834del
ENST00000672647.1:n.3021_3023del
ENST00000673058.2:c.4661_4663del ENSP00000500665.2:p.Glu1554del
ENST00000674971.1:c.4661_4663del ENSP00000502194.1:p.Glu1554del
ENST00000675230.1:c.4640_4642del ENSP00000502503.1:p.Glu1547del
ENST00000675408.1:c.4661_4663del ENSP00000502298.1:p.Glu1554del
ENST00000675476.1:c.5522_5524del ENSP00000502161.1:p.Glu1841del
ENST00000675628.1:n.4888_4890del
ENST00000675794.1:c.*2832_*2834del ENSP00000502841.1:n.*2832_*2834del
ENST00000675833.1:c.5429_5431del ENSP00000502559.1:p.Glu1810del
ENST00000675894.1:n.966_968del
ENST00000676074.1:c.4661_4663del ENSP00000502079.1:p.Glu1554del
ENST00000676181.1:n.3589_3591del
ENST00000676363.1:n.10387_10389del
ENST00000676448.1:c.*2574_*2576del ENSP00000501987.1:n.*2574_*2576del
XM_011538756.1:c.5522_5524del XP_011537058.1:p.Glu1841del
XM_011538756.3:c.5522_5524del XP_011537058.1:p.Glu1841del
XM_011538757.1:c.5522_5524del XP_011537059.1:p.Glu1841del
XM_011538757.3:c.5522_5524del XP_011537059.1:p.Glu1841del
XM_011538758.1:c.5522_5524del XP_011537060.1:p.Glu1841del
XM_011538758.3:c.5522_5524del XP_011537060.1:p.Glu1841del
XM_011538759.1:c.5522_5524del XP_011537061.1:p.Glu1841del
XM_011538759.2:c.5522_5524del XP_011537061.1:p.Glu1841del
XM_011538760.1:c.5522_5524del XP_011537062.1:p.Glu1841del
XM_011538760.2:c.5522_5524del XP_011537062.1:p.Glu1841del
XM_011538761.1:c.5522_5524del XP_011537063.1:p.Glu1841del
XM_011538761.2:c.5522_5524del XP_011537063.1:p.Glu1841del
XM_011538762.1:c.4754_4756del XP_011537064.1:p.Glu1585del
XM_011538762.3:c.4754_4756del XP_011537064.1:p.Glu1585del
XM_011538763.1:c.4661_4663del XP_011537065.1:p.Glu1554del
XM_011538763.3:c.4661_4663del XP_011537065.1:p.Glu1554del
XM_011538764.1:c.5522_5524del XP_011537066.1:p.Glu1841del
XM_011538764.3:c.5522_5524del XP_011537066.1:p.Glu1841del
XM_011538765.1:c.5522_5524del XP_011537067.1:p.Glu1841del
XM_011538765.3:c.5522_5524del XP_011537067.1:p.Glu1841del
XM_011538766.1:c.3983_3985del XP_011537068.1:p.Glu1328del
XM_011538766.3:c.3983_3985del XP_011537068.1:p.Glu1328del
XM_017019980.2:c.5522_5524del XP_016875469.1:p.Glu1841del
XM_017019981.2:c.5522_5524del XP_016875470.1:p.Glu1841del
XM_017019982.1:c.5522_5524del XP_016875471.1:p.Glu1841del
XM_017019983.2:c.4640_4642del XP_016875472.1:p.Glu1547del
XR_001748869.1:n.5866_5868del
XR_001748870.2:n.5866_5868del