Canonical Allele Identifier: CA2052905053

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88083846_88083851delinsCCCAAG , CM000674.2:g.88083846_88083851delinsCCCAAG	GRCh38
NC_000012.11:g.88477623_88477628delinsCCCAAG , CM000674.1:g.88477623_88477628delinsCCCAAG	GRCh37
NC_000012.10:g.87001754_87001759delinsCCCAAG	NCBI36
NG_008417.1:g.63366_63371delinsCTTGGG
NG_008417.2:g.63366_63371delinsCTTGGG

Transcript Alleles

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