Canonical Allele Identifier: CA2361666333

Gene: CEP250

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35472094_35472096del , CM000682.2:g.35472094_35472096del	GRCh38
NC_000020.10:g.34059919_34059921del , CM000682.1:g.34059919_34059921del	GRCh37
NC_000020.9:g.33523333_33523335del	NCBI36
NG_051604.1:g.21957_21959del

Transcript Alleles

HGVS	Amino-acid Change
NM_007186.6:c.993_995del MANE Select	NP_009117.2:p.Ser331del
ENST00000397527.6:c.993_995del MANE Select	ENSP00000380661.1:p.Ser331del
NM_001318219.1:c.-907_-905del	NP_001305148.1:n.-907_-905del
NM_007186.4:c.993_995del	NP_009117.2:p.Ser331del
NM_007186.5:c.993_995del	NP_009117.2:p.Ser331del
ENST00000397527.5:c.993_995del	ENSP00000380661.1:p.Ser331del
ENST00000425934.5:c.990_992del	ENSP00000413827.1:p.Ser330del
ENST00000461386.5:c.993_995del	ENSP00000419137.1:p.Ser331del
ENST00000474829.1:n.186_188del
ENST00000706827.1:c.1035_1037del	ENSP00000516575.1:p.Ser345del
ENST00000706828.1:c.1164_1166del	ENSP00000516576.1:p.Ser388del
ENST00000706829.1:c.993_995del	ENSP00000516577.1:p.Ser331del
ENST00000706830.1:c.993_995del	ENSP00000516578.1:p.Ser331del
XM_005260262.3:c.993_995del	XP_005260319.1:p.Ser331del
XM_005260262.4:c.993_995del	XP_005260319.1:p.Ser331del
XM_005260263.3:c.993_995del	XP_005260320.1:p.Ser331del
XM_005260263.4:c.993_995del	XP_005260320.1:p.Ser331del
XM_005260264.3:c.993_995del	XP_005260321.1:p.Ser331del
XM_005260264.4:c.993_995del	XP_005260321.1:p.Ser331del
XM_005260265.2:c.-907_-905del	XP_005260322.1:n.-907_-905del
XM_006723690.2:c.993_995del	XP_006723753.1:p.Ser331del
XM_006723690.4:c.993_995del	XP_006723753.1:p.Ser331del
XM_006723691.1:c.993_995del	XP_006723754.1:p.Ser331del
XM_006723692.2:c.993_995del	XP_006723755.1:p.Ser331del
XM_006723692.4:c.993_995del	XP_006723755.1:p.Ser331del
XM_006723693.2:c.993_995del	XP_006723756.1:p.Ser331del
XM_006723693.4:c.993_995del	XP_006723756.1:p.Ser331del
XM_006723694.2:c.993_995del	XP_006723757.1:p.Ser331del
XM_006723694.3:c.993_995del	XP_006723757.1:p.Ser331del
XM_006723695.2:c.993_995del	XP_006723758.1:p.Ser331del
XM_011528517.1:c.993_995del	XP_011526819.1:p.Ser331del
XM_011528517.2:c.993_995del	XP_011526819.1:p.Ser331del
XM_011528518.1:c.624_626del	XP_011526820.1:p.Ser208del
XM_011528518.3:c.624_626del	XP_011526820.1:p.Ser208del
XM_011528519.1:c.387_389del	XP_011526821.1:p.Ser129del
XM_011528519.2:c.387_389del	XP_011526821.1:p.Ser129del
XM_011528520.1:c.993_995del	XP_011526822.1:p.Ser331del
XM_017027617.1:c.993_995del	XP_016883106.1:p.Ser331del
XM_017027618.1:c.261_263del	XP_016883107.1:p.Ser87del
XR_001754145.1:n.1394_1396del