Canonical Allele Identifier: CA606454549

Gene: CEP290

Linked Data

• dbSNP Id: rs1318951892
• gnomAD v2: 12-88477622-AC-A
• gnomAD v4: 12-88083845-AC-A
• MyVariant Identifiers: chr12:g.88477623del (hg19) ; chr12:g.88083846del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88083848del , CM000674.2:g.88083848del	GRCh38
NC_000012.11:g.88477625del , CM000674.1:g.88477625del	GRCh37
NC_000012.10:g.87001756del	NCBI36
NG_008417.1:g.63371del
NG_008417.2:g.63371del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.4812+1del
ENST00000547691.8:c.2096+1del
ENST00000552810.6:c.4812+1del
ENST00000672414.2:c.*2983+1del
ENST00000672647.1:n.3172+1del
ENST00000673058.2:c.4812+1del
ENST00000674971.1:c.4812+1del
ENST00000675230.1:c.4791+1del
ENST00000675408.1:c.4812+1del
ENST00000675476.1:c.5673+1del
ENST00000675628.1:n.5039+1del
ENST00000675794.1:c.*2983+1del
ENST00000675833.1:c.5580+1del
ENST00000675894.1:n.1117+1del
ENST00000676074.1:c.4812+1del
ENST00000676181.1:n.3740+1del
ENST00000676363.1:n.10538+1del
ENST00000676448.1:c.*2725+1del
ENST00000309041.11:c.4818+1del
ENST00000547691.6:c.1992+1del
ENST00000552810.5:c.4812+1del
NM_025114.3:c.4812+1del
XM_011538756.1:c.5673+1del
XM_011538757.1:c.5673+1del
XM_011538758.1:c.5673+1del
XM_011538759.1:c.5673+1del
XM_011538760.1:c.5673+1del
XM_011538761.1:c.5673+1del
XM_011538762.1:c.4905+1del
XM_011538763.1:c.4812+1del
XM_011538764.1:c.5673+1del
XM_011538765.1:c.5673+1del
XM_011538766.1:c.4134+1del
XM_011538756.3:c.5673+1del
XM_011538757.3:c.5673+1del
XM_011538758.3:c.5673+1del
XM_011538759.2:c.5673+1del
XM_011538760.2:c.5673+1del
XM_011538761.2:c.5673+1del
XM_011538762.3:c.4905+1del
XM_011538763.3:c.4812+1del
XM_011538764.3:c.5673+1del
XM_011538765.3:c.5673+1del
XM_011538766.3:c.4134+1del
XM_017019980.2:c.5673+1del
XM_017019981.2:c.5673+1del
XM_017019982.1:c.5673+1del
XM_017019983.2:c.4791+1del
XR_001748869.1:n.6017+1del
XR_001748870.2:n.6017+1del
NM_025114.4:c.4812+1del