Canonical Allele Identifier: CA6712810

Gene: CEP290

Linked Data

• ClinVar Variation Id: 2082914
• ClinVar RCV Id: RCV003008981
• dbSNP Id: rs543419084
• ExAC: 12:88530401 G / GA
• gnomAD v2: 12-88530401-G-GA
• gnomAD v3: 12-88136624-G-GA
• gnomAD v4: 12-88136624-G-GA
• MyVariant Identifiers: chr12:g.88530402_88530403insA (hg19) ; chr12:g.88530401_88530402insA (hg19) ; chr12:g.88136624_88136625insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88136633dup , CM000674.2:g.88136633dup	GRCh38
NC_000012.11:g.88530410dup , CM000674.1:g.88530410dup	GRCh37
NC_000012.10:g.87054541dup	NCBI36
NG_008417.1:g.10592dup
NG_008417.2:g.10592dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.441+18dup	ENSP00000308021.8:n.441+18dup
ENST00000397838.8:c.441+18dup	ENSP00000380938.5:n.441+18dup
ENST00000547926.7:c.441+18dup	ENSP00000448573.3:n.441+18dup
ENST00000550962.6:c.459dup	ENSP00000447623.2:p.Pro154SerfsTer17
ENST00000552770.3:c.459dup	ENSP00000447527.3:p.Pro154SerfsTer17
ENST00000552810.6:c.441+18dup MANE Select	ENSP00000448012.1:n.441+18dup
ENST00000671822.2:n.668+18dup
ENST00000672414.2:c.441+18dup	ENSP00000500729.1:n.441+18dup
ENST00000673058.2:c.441+18dup	ENSP00000500665.2:n.441+18dup
ENST00000674971.1:c.441+18dup	ENSP00000502194.1:n.441+18dup
ENST00000675230.1:c.441+18dup	ENSP00000502503.1:n.441+18dup
ENST00000675361.1:c.459dup	ENSP00000502678.1:p.Pro154SerfsTer17
ENST00000675408.1:c.441+18dup	ENSP00000502298.1:n.441+18dup
ENST00000675476.1:c.441+18dup	ENSP00000502161.1:n.441+18dup
ENST00000675559.1:c.441+18dup	ENSP00000502163.1:n.441+18dup
ENST00000675628.1:n.668+18dup
ENST00000675794.1:c.441+18dup	ENSP00000502841.1:n.441+18dup
ENST00000675833.1:c.441+18dup	ENSP00000502559.1:n.441+18dup
ENST00000676074.1:c.441+18dup	ENSP00000502079.1:n.441+18dup
ENST00000676331.1:n.668+18dup
ENST00000676351.1:c.437+22dup	ENSP00000502046.1:n.437+22dup
ENST00000676418.1:c.441+18dup	ENSP00000502371.1:n.441+18dup
ENST00000676448.1:c.441+18dup	ENSP00000501987.1:n.441+18dup
ENST00000309041.11:c.441+18dup	ENSP00000308021.7:n.441+18dup
ENST00000397838.7:c.441+18dup	ENSP00000380938.4:n.441+18dup
ENST00000547926.6:c.339+18dup	ENSP00000448573.2:n.339+18dup
ENST00000550962.5:c.441+18dup	ENSP00000447623.1:n.441+18dup
ENST00000552770.2:c.318dup	ENSP00000447527.2:p.Pro107SerfsTer17
ENST00000552810.5:c.441+18dup	ENSP00000448012.1:n.441+18dup
NM_025114.3:c.441+18dup	NP_079390.3:n.441+18dup
XM_011538756.1:c.441+18dup	XP_011537058.1:n.441+18dup
XM_011538757.1:c.441+18dup	XP_011537059.1:n.441+18dup
XM_011538758.1:c.441+18dup	XP_011537060.1:n.441+18dup
XM_011538759.1:c.441+18dup	XP_011537061.1:n.441+18dup
XM_011538760.1:c.441+18dup	XP_011537062.1:n.441+18dup
XM_011538761.1:c.441+18dup	XP_011537063.1:n.441+18dup
XM_011538762.1:c.441+18dup	XP_011537064.1:n.441+18dup
XM_011538763.1:c.441+18dup	XP_011537065.1:n.441+18dup
XM_011538764.1:c.441+18dup	XP_011537066.1:n.441+18dup
XM_011538765.1:c.441+18dup	XP_011537067.1:n.441+18dup
XM_011538756.3:c.441+18dup	XP_011537058.1:n.441+18dup
XM_011538757.3:c.441+18dup	XP_011537059.1:n.441+18dup
XM_011538758.3:c.441+18dup	XP_011537060.1:n.441+18dup
XM_011538759.2:c.441+18dup	XP_011537061.1:n.441+18dup
XM_011538760.2:c.441+18dup	XP_011537062.1:n.441+18dup
XM_011538761.2:c.441+18dup	XP_011537063.1:n.441+18dup
XM_011538762.3:c.441+18dup	XP_011537064.1:n.441+18dup
XM_011538763.3:c.441+18dup	XP_011537065.1:n.441+18dup
XM_011538764.3:c.441+18dup	XP_011537066.1:n.441+18dup
XM_011538765.3:c.441+18dup	XP_011537067.1:n.441+18dup
XM_017019980.2:c.441+18dup	XP_016875469.1:n.441+18dup
XM_017019981.2:c.441+18dup	XP_016875470.1:n.441+18dup
XM_017019982.1:c.441+18dup	XP_016875471.1:n.441+18dup
XM_017019983.2:c.441+18dup	XP_016875472.1:n.441+18dup
XR_001748869.1:n.785+18dup
XR_001748870.2:n.785+18dup
NM_025114.4:c.441+18dup MANE Select	NP_079390.3:n.441+18dup