Canonical Allele Identifier: CA236396
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 191279
ClinVar RCV Id: RCV000171470
dbSNP Id: rs786205620

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88093891del , CM000674.2:g.88093891del GRCh38
NC_000012.11:g.88487668del , CM000674.1:g.88487668del GRCh37
NC_000012.10:g.87011799del NCBI36
NG_008417.1:g.53328del
NG_008417.2:g.53328del

Transcript Alleles

HGVS Amino-acid change
ENST00000309041.12:c.3190del ENSP00000308021.8:p.Met1064Ter
ENST00000547691.8:c.474del
ENST00000552810.6:c.3190del MANE Select ENSP00000448012.1:p.Met1064Ter
ENST00000672414.2:c.*1361del ENSP00000500729.1:n.*1361del
ENST00000672647.1:n.1550del
ENST00000673058.2:c.3190del ENSP00000500665.2:p.Met1064Ter
ENST00000674971.1:c.3190del ENSP00000502194.1:p.Met1064Ter
ENST00000675089.1:c.286+2999del ENSP00000501582.1:n.286+2999del
ENST00000675230.1:c.3169del ENSP00000502503.1:p.Met1057Ter
ENST00000675408.1:c.3190del ENSP00000502298.1:p.Met1064Ter
ENST00000675476.1:c.4051del ENSP00000502161.1:p.Met1351Ter
ENST00000675628.1:n.3417del
ENST00000675794.1:c.*1361del ENSP00000502841.1:n.*1361del
ENST00000675833.1:c.3958del ENSP00000502559.1:p.Met1320Ter
ENST00000676074.1:c.3190del ENSP00000502079.1:p.Met1064Ter
ENST00000676181.1:n.878del
ENST00000676363.1:n.8916del
ENST00000676448.1:c.*1103del ENSP00000501987.1:n.*1103del
ENST00000309041.11:c.3196del ENSP00000308021.7:p.Met1066Ter
ENST00000547691.6:c.370del ENSP00000446905.1:p.Met124Ter
ENST00000552810.5:c.3190del ENSP00000448012.1:p.Met1064Ter
ENST00000604024.5:c.2449del ENSP00000473863.1:p.Met817Ter
NM_025114.3:c.3190del NP_079390.3:p.Met1064Ter
XM_011538756.1:c.4051del XP_011537058.1:p.Met1351Ter
XM_011538757.1:c.4051del XP_011537059.1:p.Met1351Ter
XM_011538758.1:c.4051del XP_011537060.1:p.Met1351Ter
XM_011538759.1:c.4051del XP_011537061.1:p.Met1351Ter
XM_011538760.1:c.4051del XP_011537062.1:p.Met1351Ter
XM_011538761.1:c.4051del XP_011537063.1:p.Met1351Ter
XM_011538762.1:c.3283del XP_011537064.1:p.Met1095Ter
XM_011538763.1:c.3190del XP_011537065.1:p.Met1064Ter
XM_011538764.1:c.4051del XP_011537066.1:p.Met1351Ter
XM_011538765.1:c.4051del XP_011537067.1:p.Met1351Ter
XM_011538766.1:c.2512del XP_011537068.1:p.Met838Ter
XM_011538756.3:c.4051del XP_011537058.1:p.Met1351Ter
XM_011538757.3:c.4051del XP_011537059.1:p.Met1351Ter
XM_011538758.3:c.4051del XP_011537060.1:p.Met1351Ter
XM_011538759.2:c.4051del XP_011537061.1:p.Met1351Ter
XM_011538760.2:c.4051del XP_011537062.1:p.Met1351Ter
XM_011538761.2:c.4051del XP_011537063.1:p.Met1351Ter
XM_011538762.3:c.3283del XP_011537064.1:p.Met1095Ter
XM_011538763.3:c.3190del XP_011537065.1:p.Met1064Ter
XM_011538764.3:c.4051del XP_011537066.1:p.Met1351Ter
XM_011538765.3:c.4051del XP_011537067.1:p.Met1351Ter
XM_011538766.3:c.2512del XP_011537068.1:p.Met838Ter
XM_017019980.2:c.4051del XP_016875469.1:p.Met1351Ter
XM_017019981.2:c.4051del XP_016875470.1:p.Met1351Ter
XM_017019982.1:c.4051del XP_016875471.1:p.Met1351Ter
XM_017019983.2:c.3169del XP_016875472.1:p.Met1057Ter
XR_001748869.1:n.4395del
XR_001748870.2:n.4395del
NM_025114.4:c.3190del MANE Select NP_079390.3:p.Met1064Ter