Canonical Allele Identifier: CA144394
Gene: CEP290 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88092697_88092698del , CM000674.2:g.88092697_88092698del GRCh38
NC_000012.11:g.88486474_88486475del , CM000674.1:g.88486474_88486475del GRCh37
NC_000012.10:g.87010605_87010606del NCBI36
NG_008417.1:g.54521_54522del
NG_008417.2:g.54521_54522del

Transcript Alleles

HGVS Amino-acid Change
ENST00000309041.12:c.3446_3447del ENSP00000308021.8:p.Lys1149SerfsTer2
ENST00000547691.8:c.730_731del
ENST00000552810.6:c.3446_3447del MANE Select ENSP00000448012.1:p.Lys1149SerfsTer2
ENST00000672414.2:c.*1617_*1618del ENSP00000500729.1:n.*1617_*1618del
ENST00000672647.1:n.1806_1807del
ENST00000673058.2:c.3446_3447del ENSP00000500665.2:p.Lys1149SerfsTer2
ENST00000674971.1:c.3446_3447del ENSP00000502194.1:p.Lys1149SerfsTer2
ENST00000675089.1:c.287-1857_287-1856del ENSP00000501582.1:n.287-1857_287-1856del
ENST00000675230.1:c.3425_3426del ENSP00000502503.1:p.Lys1142SerfsTer2
ENST00000675408.1:c.3446_3447del ENSP00000502298.1:p.Lys1149SerfsTer2
ENST00000675476.1:c.4307_4308del ENSP00000502161.1:p.Lys1436SerfsTer2
ENST00000675628.1:n.3673_3674del
ENST00000675794.1:c.*1617_*1618del ENSP00000502841.1:n.*1617_*1618del
ENST00000675833.1:c.4214_4215del ENSP00000502559.1:p.Lys1405SerfsTer2
ENST00000676074.1:c.3446_3447del ENSP00000502079.1:p.Lys1149SerfsTer2
ENST00000676181.1:n.1134_1135del
ENST00000676363.1:n.9172_9173del
ENST00000676448.1:c.*1359_*1360del ENSP00000501987.1:n.*1359_*1360del
ENST00000309041.11:c.3452_3453del ENSP00000308021.7:p.Lys1151SerfsTer2
ENST00000547691.6:c.626_627del ENSP00000446905.1:p.Lys209SerfsTer2
ENST00000552810.5:c.3446_3447del ENSP00000448012.1:p.Lys1149SerfsTer2
NM_025114.3:c.3446_3447del NP_079390.3:p.Lys1149SerfsTer2
XM_011538756.1:c.4307_4308del XP_011537058.1:p.Lys1436SerfsTer2
XM_011538757.1:c.4307_4308del XP_011537059.1:p.Lys1436SerfsTer2
XM_011538758.1:c.4307_4308del XP_011537060.1:p.Lys1436SerfsTer2
XM_011538759.1:c.4307_4308del XP_011537061.1:p.Lys1436SerfsTer2
XM_011538760.1:c.4307_4308del XP_011537062.1:p.Lys1436SerfsTer2
XM_011538761.1:c.4307_4308del XP_011537063.1:p.Lys1436SerfsTer2
XM_011538762.1:c.3539_3540del XP_011537064.1:p.Lys1180SerfsTer2
XM_011538763.1:c.3446_3447del XP_011537065.1:p.Lys1149SerfsTer2
XM_011538764.1:c.4307_4308del XP_011537066.1:p.Lys1436SerfsTer2
XM_011538765.1:c.4307_4308del XP_011537067.1:p.Lys1436SerfsTer2
XM_011538766.1:c.2768_2769del XP_011537068.1:p.Lys923SerfsTer2
XM_011538756.3:c.4307_4308del XP_011537058.1:p.Lys1436SerfsTer2
XM_011538757.3:c.4307_4308del XP_011537059.1:p.Lys1436SerfsTer2
XM_011538758.3:c.4307_4308del XP_011537060.1:p.Lys1436SerfsTer2
XM_011538759.2:c.4307_4308del XP_011537061.1:p.Lys1436SerfsTer2
XM_011538760.2:c.4307_4308del XP_011537062.1:p.Lys1436SerfsTer2
XM_011538761.2:c.4307_4308del XP_011537063.1:p.Lys1436SerfsTer2
XM_011538762.3:c.3539_3540del XP_011537064.1:p.Lys1180SerfsTer2
XM_011538763.3:c.3446_3447del XP_011537065.1:p.Lys1149SerfsTer2
XM_011538764.3:c.4307_4308del XP_011537066.1:p.Lys1436SerfsTer2
XM_011538765.3:c.4307_4308del XP_011537067.1:p.Lys1436SerfsTer2
XM_011538766.3:c.2768_2769del XP_011537068.1:p.Lys923SerfsTer2
XM_017019980.2:c.4307_4308del XP_016875469.1:p.Lys1436SerfsTer2
XM_017019981.2:c.4307_4308del XP_016875470.1:p.Lys1436SerfsTer2
XM_017019982.1:c.4307_4308del XP_016875471.1:p.Lys1436SerfsTer2
XM_017019983.2:c.3425_3426del XP_016875472.1:p.Lys1142SerfsTer2
XR_001748869.1:n.4651_4652del
XR_001748870.2:n.4651_4652del
NM_025114.4:c.3446_3447del MANE Select NP_079390.3:p.Lys1149SerfsTer2