Canonical Allele Identifier: CA606454552

Gene: CEP290

Linked Data

• dbSNP Id: rs1284883839
• gnomAD v2: 12-88477622-ACCCAAG-A
• gnomAD v3: 12-88083845-ACCCAAG-A
• gnomAD v4: 12-88083845-ACCCAAG-A
• MyVariant Identifiers: chr12:g.88477623_88477628del (hg19) ; chr12:g.88083846_88083851del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88083848_88083853del , CM000674.2:g.88083848_88083853del	GRCh38
NC_000012.11:g.88477625_88477630del , CM000674.1:g.88477625_88477630del	GRCh37
NC_000012.10:g.87001756_87001761del	NCBI36
NG_008417.1:g.63366_63371del
NG_008417.2:g.63366_63371del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.4808_4812+1del
ENST00000547691.8:c.2092_2096+1del
ENST00000552810.6:c.4808_4812+1del
ENST00000672414.2:c.*2979_*2983+1del
ENST00000672647.1:n.3168_3172+1del
ENST00000673058.2:c.4808_4812+1del
ENST00000674971.1:c.4808_4812+1del
ENST00000675230.1:c.4787_4791+1del
ENST00000675408.1:c.4808_4812+1del
ENST00000675476.1:c.5669_5673+1del
ENST00000675628.1:n.5035_5039+1del
ENST00000675794.1:c.*2979_*2983+1del
ENST00000675833.1:c.5576_5580+1del
ENST00000675894.1:n.1113_1117+1del
ENST00000676074.1:c.4808_4812+1del
ENST00000676181.1:n.3736_3740+1del
ENST00000676363.1:n.10534_10538+1del
ENST00000676448.1:c.*2721_*2725+1del
ENST00000309041.11:c.4814_4818+1del
ENST00000547691.6:c.1988_1992+1del
ENST00000552810.5:c.4808_4812+1del
NM_025114.3:c.4808_4812+1del
XM_011538756.1:c.5669_5673+1del
XM_011538757.1:c.5669_5673+1del
XM_011538758.1:c.5669_5673+1del
XM_011538759.1:c.5669_5673+1del
XM_011538760.1:c.5669_5673+1del
XM_011538761.1:c.5669_5673+1del
XM_011538762.1:c.4901_4905+1del
XM_011538763.1:c.4808_4812+1del
XM_011538764.1:c.5669_5673+1del
XM_011538765.1:c.5669_5673+1del
XM_011538766.1:c.4130_4134+1del
XM_011538756.3:c.5669_5673+1del
XM_011538757.3:c.5669_5673+1del
XM_011538758.3:c.5669_5673+1del
XM_011538759.2:c.5669_5673+1del
XM_011538760.2:c.5669_5673+1del
XM_011538761.2:c.5669_5673+1del
XM_011538762.3:c.4901_4905+1del
XM_011538763.3:c.4808_4812+1del
XM_011538764.3:c.5669_5673+1del
XM_011538765.3:c.5669_5673+1del
XM_011538766.3:c.4130_4134+1del
XM_017019980.2:c.5669_5673+1del
XM_017019981.2:c.5669_5673+1del
XM_017019982.1:c.5669_5673+1del
XM_017019983.2:c.4787_4791+1del
XR_001748869.1:n.6013_6017+1del
XR_001748870.2:n.6013_6017+1del
NM_025114.4:c.4808_4812+1del