Canonical Allele Identifier: CA6712113

Gene: CEP290

Linked Data

• ClinVar Variation Id: 1168611
• ClinVar RCV Id: RCV001518996
• dbSNP Id: rs10717563
• ExAC: 12:88483272 T / TA
• gnomAD v2: 12-88483272-T-TA
• gnomAD v3: 12-88089495-T-TA
• gnomAD v4: 12-88089495-T-TA
• MyVariant Identifiers: chr12:g.88483273_88483274insA (hg19) ; chr12:g.88483272_88483273insA (hg19) ; chr12:g.88089496_88089497insA (hg38) ; chr12:g.88089495_88089496insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88089503dup , CM000674.2:g.88089503dup	GRCh38
NC_000012.11:g.88483280dup , CM000674.1:g.88483280dup	GRCh37
NC_000012.10:g.87007411dup	NCBI36
NG_008417.1:g.57721dup
NG_008417.2:g.57721dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.3574-9dup	ENSP00000308021.8:n.3574-9dup
ENST00000547691.8:c.858-9dup
ENST00000552810.6:c.3574-9dup MANE Select	ENSP00000448012.1:n.3574-9dup
ENST00000672414.2:c.*1745-9dup	ENSP00000500729.1:n.*1745-9dup
ENST00000672647.1:n.1934-9dup
ENST00000673058.2:c.3574-9dup	ENSP00000500665.2:n.3574-9dup
ENST00000674971.1:c.3574-9dup	ENSP00000502194.1:n.3574-9dup
ENST00000675089.1:c.399-9dup	ENSP00000501582.1:n.399-9dup
ENST00000675230.1:c.3553-9dup	ENSP00000502503.1:n.3553-9dup
ENST00000675408.1:c.3574-9dup	ENSP00000502298.1:n.3574-9dup
ENST00000675476.1:c.4435-9dup	ENSP00000502161.1:n.4435-9dup
ENST00000675628.1:n.3801-9dup
ENST00000675794.1:c.*1745-9dup	ENSP00000502841.1:n.*1745-9dup
ENST00000675833.1:c.4342-9dup	ENSP00000502559.1:n.4342-9dup
ENST00000676074.1:c.3574-9dup	ENSP00000502079.1:n.3574-9dup
ENST00000676181.1:n.2493dup
ENST00000676363.1:n.9300-9dup
ENST00000676448.1:c.*1487-9dup	ENSP00000501987.1:n.*1487-9dup
ENST00000309041.11:c.3580-9dup	ENSP00000308021.7:n.3580-9dup
ENST00000547691.6:c.754-9dup	ENSP00000446905.1:n.754-9dup
ENST00000552810.5:c.3574-9dup	ENSP00000448012.1:n.3574-9dup
NM_025114.3:c.3574-9dup	NP_079390.3:n.3574-9dup
XM_011538756.1:c.4435-9dup	XP_011537058.1:n.4435-9dup
XM_011538757.1:c.4435-9dup	XP_011537059.1:n.4435-9dup
XM_011538758.1:c.4435-9dup	XP_011537060.1:n.4435-9dup
XM_011538759.1:c.4435-9dup	XP_011537061.1:n.4435-9dup
XM_011538760.1:c.4435-9dup	XP_011537062.1:n.4435-9dup
XM_011538761.1:c.4435-9dup	XP_011537063.1:n.4435-9dup
XM_011538762.1:c.3667-9dup	XP_011537064.1:n.3667-9dup
XM_011538763.1:c.3574-9dup	XP_011537065.1:n.3574-9dup
XM_011538764.1:c.4435-9dup	XP_011537066.1:n.4435-9dup
XM_011538765.1:c.4435-9dup	XP_011537067.1:n.4435-9dup
XM_011538766.1:c.2896-9dup	XP_011537068.1:n.2896-9dup
XM_011538756.3:c.4435-9dup	XP_011537058.1:n.4435-9dup
XM_011538757.3:c.4435-9dup	XP_011537059.1:n.4435-9dup
XM_011538758.3:c.4435-9dup	XP_011537060.1:n.4435-9dup
XM_011538759.2:c.4435-9dup	XP_011537061.1:n.4435-9dup
XM_011538760.2:c.4435-9dup	XP_011537062.1:n.4435-9dup
XM_011538761.2:c.4435-9dup	XP_011537063.1:n.4435-9dup
XM_011538762.3:c.3667-9dup	XP_011537064.1:n.3667-9dup
XM_011538763.3:c.3574-9dup	XP_011537065.1:n.3574-9dup
XM_011538764.3:c.4435-9dup	XP_011537066.1:n.4435-9dup
XM_011538765.3:c.4435-9dup	XP_011537067.1:n.4435-9dup
XM_011538766.3:c.2896-9dup	XP_011537068.1:n.2896-9dup
XM_017019980.2:c.4435-9dup	XP_016875469.1:n.4435-9dup
XM_017019981.2:c.4435-9dup	XP_016875470.1:n.4435-9dup
XM_017019982.1:c.4435-9dup	XP_016875471.1:n.4435-9dup
XM_017019983.2:c.3553-9dup	XP_016875472.1:n.3553-9dup
XR_001748869.1:n.4779-9dup
XR_001748870.2:n.4779-9dup
NM_025114.4:c.3574-9dup MANE Select	NP_079390.3:n.3574-9dup