Canonical Allele Identifier: CA16609555
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 402224
ClinVar RCV Id: RCV000454358 RCV000813873
dbSNP Id: rs1060499781
gnomAD v4: 12-88058846-A-ACC
MyVariant Identifiers: chr12:g.88452623_88452624insCC (hg19) chr12:g.88058846_88058847insCC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88058847_88058848dup , CM000674.2:g.88058847_88058848dup GRCh38
NC_000012.11:g.88452624_88452625dup , CM000674.1:g.88452624_88452625dup GRCh37
NC_000012.10:g.86976755_86976756dup NCBI36
NG_008417.1:g.88369_88370dup
NG_008417.2:g.88369_88370dup

Transcript Alleles

HGVS Amino-acid change
ENST00000309041.12:c.6827_6827+1dup
ENST00000547691.8:c.3929+1050_3929+1051dup
ENST00000552810.6:c.6818_6818+1dup
ENST00000671777.2:n.597_597+1dup
ENST00000672414.2:c.*4824_*4824+1dup
ENST00000672647.1:n.5178_5178+1dup
ENST00000673058.2:c.6695_6695+1dup
ENST00000674712.1:n.345_345+1dup
ENST00000674889.1:n.3771_3771+1dup
ENST00000674971.1:c.6818_6818+1dup
ENST00000675230.1:c.6797_6797+1dup
ENST00000675408.1:c.6653_6653+1dup
ENST00000675476.1:c.7679_7679+1dup
ENST00000675628.1:n.7045_7045+1dup
ENST00000675794.1:c.*4989_*4989+1dup
ENST00000675833.1:c.7586_7586+1dup
ENST00000675894.1:n.3123_3123+1dup
ENST00000676074.1:c.6653_6653+1dup
ENST00000676181.1:n.5746_5746+1dup
ENST00000676190.1:n.1257_1257+1dup
ENST00000676363.1:n.12544_12544+1dup
ENST00000309041.11:c.6824_6824+1dup
ENST00000547691.6:c.3998_3998+1dup
ENST00000552810.5:c.6818_6818+1dup
NM_025114.3:c.6818_6818+1dup
XM_011538756.1:c.7688_7688+1dup
XM_011538757.1:c.7688_7688+1dup
XM_011538758.1:c.7685_7685+1dup
XM_011538759.1:c.7679_7679+1dup
XM_011538760.1:c.7565_7565+1dup
XM_011538761.1:c.7523_7523+1dup
XM_011538762.1:c.6920_6920+1dup
XM_011538763.1:c.6827_6827+1dup
XM_011538766.1:c.6149_6149+1dup
XR_945163.1:n.967+1827_967+1828dup
XM_011538756.3:c.7688_7688+1dup
XM_011538757.3:c.7688_7688+1dup
XM_011538758.3:c.7685_7685+1dup
XM_011538759.2:c.7679_7679+1dup
XM_011538760.2:c.7565_7565+1dup
XM_011538761.2:c.7523_7523+1dup
XM_011538762.3:c.6920_6920+1dup
XM_011538763.3:c.6827_6827+1dup
XM_011538766.3:c.6149_6149+1dup
XM_017019980.2:c.7556_7556+1dup
XM_017019981.2:c.7514_7514+1dup
XM_017019982.1:c.7688_7688+1dup
XM_017019983.2:c.6806_6806+1dup
XR_001748869.1:n.8023_8023+1dup
XR_001748870.2:n.7858_7858+1dup
NM_025114.4:c.6818_6818+1dup
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