Canonical Allele Identifier: CA16621640
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 425015
ClinVar RCV Id: RCV000487868
dbSNP Id: rs1064797171

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88089276_88089277insAA , CM000674.2:g.88089276_88089277insAA GRCh38
NC_000012.11:g.88483053_88483054insAA , CM000674.1:g.88483053_88483054insAA GRCh37
NC_000012.10:g.87007184_87007185insAA NCBI36
NG_008417.1:g.57940_57941insTT
NG_008417.2:g.57940_57941insTT

Transcript Alleles

HGVS Amino-acid change
ENST00000309041.12:c.3784_3785insTT ENSP00000308021.8:p.His1262LeufsTer30
ENST00000547691.8:c.1068_1069insTT
ENST00000552810.6:c.3784_3785insTT MANE Select ENSP00000448012.1:p.His1262LeufsTer30
ENST00000672414.2:c.*1955_*1956insTT ENSP00000500729.1:n.*1955_*1956insTT
ENST00000672647.1:n.2144_2145insTT
ENST00000673058.2:c.3784_3785insTT ENSP00000500665.2:p.His1262LeufsTer30
ENST00000674971.1:c.3784_3785insTT ENSP00000502194.1:p.His1262LeufsTer30
ENST00000675230.1:c.3763_3764insTT ENSP00000502503.1:p.His1255LeufsTer30
ENST00000675408.1:c.3784_3785insTT ENSP00000502298.1:p.His1262LeufsTer30
ENST00000675476.1:c.4645_4646insTT ENSP00000502161.1:p.His1549LeufsTer30
ENST00000675628.1:n.4011_4012insTT
ENST00000675794.1:c.*1955_*1956insTT ENSP00000502841.1:n.*1955_*1956insTT
ENST00000675833.1:c.4552_4553insTT ENSP00000502559.1:p.His1518LeufsTer30
ENST00000676074.1:c.3784_3785insTT ENSP00000502079.1:p.His1262LeufsTer30
ENST00000676181.1:n.2712_2713insTT
ENST00000676363.1:n.9510_9511insTT
ENST00000676448.1:c.*1697_*1698insTT ENSP00000501987.1:n.*1697_*1698insTT
ENST00000309041.11:c.3790_3791insTT ENSP00000308021.7:p.His1264LeufsTer30
ENST00000547691.6:c.964_965insTT ENSP00000446905.1:p.His322LeufsTer30
ENST00000552810.5:c.3784_3785insTT ENSP00000448012.1:p.His1262LeufsTer30
NM_025114.3:c.3784_3785insTT NP_079390.3:p.His1262LeufsTer30
XM_011538756.1:c.4645_4646insTT XP_011537058.1:p.His1549LeufsTer30
XM_011538757.1:c.4645_4646insTT XP_011537059.1:p.His1549LeufsTer30
XM_011538758.1:c.4645_4646insTT XP_011537060.1:p.His1549LeufsTer30
XM_011538759.1:c.4645_4646insTT XP_011537061.1:p.His1549LeufsTer30
XM_011538760.1:c.4645_4646insTT XP_011537062.1:p.His1549LeufsTer30
XM_011538761.1:c.4645_4646insTT XP_011537063.1:p.His1549LeufsTer30
XM_011538762.1:c.3877_3878insTT XP_011537064.1:p.His1293LeufsTer30
XM_011538763.1:c.3784_3785insTT XP_011537065.1:p.His1262LeufsTer30
XM_011538764.1:c.4645_4646insTT XP_011537066.1:p.His1549LeufsTer30
XM_011538765.1:c.4645_4646insTT XP_011537067.1:p.His1549LeufsTer30
XM_011538766.1:c.3106_3107insTT XP_011537068.1:p.His1036LeufsTer30
XM_011538756.3:c.4645_4646insTT XP_011537058.1:p.His1549LeufsTer30
XM_011538757.3:c.4645_4646insTT XP_011537059.1:p.His1549LeufsTer30
XM_011538758.3:c.4645_4646insTT XP_011537060.1:p.His1549LeufsTer30
XM_011538759.2:c.4645_4646insTT XP_011537061.1:p.His1549LeufsTer30
XM_011538760.2:c.4645_4646insTT XP_011537062.1:p.His1549LeufsTer30
XM_011538761.2:c.4645_4646insTT XP_011537063.1:p.His1549LeufsTer30
XM_011538762.3:c.3877_3878insTT XP_011537064.1:p.His1293LeufsTer30
XM_011538763.3:c.3784_3785insTT XP_011537065.1:p.His1262LeufsTer30
XM_011538764.3:c.4645_4646insTT XP_011537066.1:p.His1549LeufsTer30
XM_011538765.3:c.4645_4646insTT XP_011537067.1:p.His1549LeufsTer30
XM_011538766.3:c.3106_3107insTT XP_011537068.1:p.His1036LeufsTer30
XM_017019980.2:c.4645_4646insTT XP_016875469.1:p.His1549LeufsTer30
XM_017019981.2:c.4645_4646insTT XP_016875470.1:p.His1549LeufsTer30
XM_017019982.1:c.4645_4646insTT XP_016875471.1:p.His1549LeufsTer30
XM_017019983.2:c.3763_3764insTT XP_016875472.1:p.His1255LeufsTer30
XR_001748869.1:n.4989_4990insTT
XR_001748870.2:n.4989_4990insTT
NM_025114.4:c.3784_3785insTT MANE Select NP_079390.3:p.His1262LeufsTer30