Canonical Allele Identifier: CA7548105

Gene: CEP152

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48739004_48739005del , CM000677.2:g.48739004_48739005del	GRCh38
NC_000015.9:g.49031201_49031202del , CM000677.1:g.49031201_49031202del	GRCh37
NC_000015.8:g.46818493_46818494del	NCBI36
NG_027518.1:g.77143_77144del
NG_027518.2:g.77143_77144del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380950.7:c.4378_4379del MANE Select	ENSP00000370337.2:p.Val1460PhefsTer3
ENST00000380950.6:c.4378_4379del	ENSP00000370337.2:p.Val1460PhefsTer3
ENST00000399334.7:c.4210_4211del	ENSP00000382271.3:p.Val1404PhefsTer3
ENST00000561245.1:c.142+2627_142+2628del	ENSP00000453591.1:n.142+2627_142+2628del
NM_001194998.1:c.4378_4379del	NP_001181927.1:p.Val1460PhefsTer3
NM_014985.3:c.4210_4211del	NP_055800.2:p.Val1404PhefsTer3
XM_006720437.2:c.4378_4379del	XP_006720500.1:p.Val1460PhefsTer3
XM_011521373.1:c.4348_4349del	XP_011519675.1:p.Val1450PhefsTer3
XM_011521374.1:c.4093+2597_4093+2598del	XP_011519676.1:n.4093+2597_4093+2598del
XM_011521375.1:c.4064-1783_4064-1782del	XP_011519677.1:n.4064-1783_4064-1782del
XM_011521376.1:c.4063+2627_4063+2628del	XP_011519678.1:n.4063+2627_4063+2628del
XM_011521378.1:c.4063+2627_4063+2628del	XP_011519680.1:n.4063+2627_4063+2628del
XM_011521380.1:c.2419_2420del	XP_011519682.1:p.Val807PhefsTer3
XM_011521381.1:c.2413_2414del	XP_011519683.1:p.Val805PhefsTer3
XR_931769.1:n.5029-1783_5029-1782del
XR_931770.1:n.5058+2597_5058+2598del
XR_931771.1:n.5058+2597_5058+2598del
XR_931772.1:n.5058+2597_5058+2598del
XR_931773.1:n.5058+2597_5058+2598del
XR_931774.1:n.5058+2597_5058+2598del
XR_931775.1:n.5028+2627_5028+2628del
XM_006720437.3:c.4378_4379del	XP_006720500.1:p.Val1460PhefsTer3
XM_011521373.3:c.4348_4349del	XP_011519675.1:p.Val1450PhefsTer3
XM_011521374.3:c.4093+2597_4093+2598del	XP_011519676.1:n.4093+2597_4093+2598del
XM_011521375.3:c.4064-1783_4064-1782del	XP_011519677.1:n.4064-1783_4064-1782del
XM_011521378.3:c.4063+2627_4063+2628del	XP_011519680.1:n.4063+2627_4063+2628del
XM_011521379.3:c.*248_*249del	XP_011519681.1:n.*248_*249del
XM_011521381.2:c.2413_2414del	XP_011519683.1:p.Val805PhefsTer3
XM_017022015.1:c.2413_2414del	XP_016877504.1:p.Val805PhefsTer3
XM_024449875.1:c.4180_4181del	XP_024305643.1:p.Val1394PhefsTer3
XR_001751153.2:n.5014+2627_5014+2628del
XR_931769.3:n.5015-1783_5015-1782del
XR_931770.3:n.5044+2597_5044+2598del
XR_931775.3:n.5014+2627_5014+2628del
NM_001194998.2:c.4378_4379del MANE Select	NP_001181927.1:p.Val1460PhefsTer3
NM_014985.4:c.4210_4211del	NP_055800.2:p.Val1404PhefsTer3