Canonical Allele Identifier: CA211034
Gene: CEP152 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48760150del , CM000677.2:g.48760150del GRCh38
NC_000015.9:g.49052347del , CM000677.1:g.49052347del GRCh37
NC_000015.8:g.46839639del NCBI36
NG_027518.1:g.55997del
NG_027518.2:g.55997del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380950.7:c.2679del MANE Select ENSP00000370337.2:p.Ser894LeufsTer2
ENST00000325747.9:c.2400del ENSP00000321000.5:p.Ser801LeufsTer2
ENST00000380950.6:c.2679del ENSP00000370337.2:p.Ser894LeufsTer2
ENST00000399334.7:c.2679del ENSP00000382271.3:p.Ser894LeufsTer2
NM_001194998.1:c.2679del NP_001181927.1:p.Ser894LeufsTer2
NM_014985.3:c.2679del NP_055800.2:p.Ser894LeufsTer2
XM_006720437.2:c.2679del XP_006720500.1:p.Ser894LeufsTer2
XM_011521373.1:c.2679del XP_011519675.1:p.Ser894LeufsTer2
XM_011521374.1:c.2679del XP_011519676.1:p.Ser894LeufsTer2
XM_011521375.1:c.2679del XP_011519677.1:p.Ser894LeufsTer2
XM_011521376.1:c.2679del XP_011519678.1:p.Ser894LeufsTer2
XM_011521377.1:c.2679del XP_011519679.1:p.Ser894LeufsTer2
XM_011521378.1:c.2679del XP_011519680.1:p.Ser894LeufsTer2
XM_011521379.1:c.2679del XP_011519681.1:p.Ser894LeufsTer2
XM_011521380.1:c.720del XP_011519682.1:p.Ser241LeufsTer2
XM_011521381.1:c.714del XP_011519683.1:p.Ser239LeufsTer2
XR_931769.1:n.3644del
XR_931770.1:n.3644del
XR_931771.1:n.3644del
XR_931772.1:n.3644del
XR_931773.1:n.3644del
XR_931774.1:n.3644del
XR_931775.1:n.3644del
XM_006720437.3:c.2679del XP_006720500.1:p.Ser894LeufsTer2
XM_011521373.3:c.2679del XP_011519675.1:p.Ser894LeufsTer2
XM_011521374.3:c.2679del XP_011519676.1:p.Ser894LeufsTer2
XM_011521375.3:c.2679del XP_011519677.1:p.Ser894LeufsTer2
XM_011521378.3:c.2679del XP_011519680.1:p.Ser894LeufsTer2
XM_011521379.3:c.2679del XP_011519681.1:p.Ser894LeufsTer2
XM_011521381.2:c.714del XP_011519683.1:p.Ser239LeufsTer2
XM_017022015.1:c.714del XP_016877504.1:p.Ser239LeufsTer2
XM_024449875.1:c.2679del XP_024305643.1:p.Ser894LeufsTer2
XR_001751153.2:n.3630del
XR_931769.3:n.3630del
XR_931770.3:n.3630del
XR_931775.3:n.3630del
NM_001194998.2:c.2679del MANE Select NP_001181927.1:p.Ser894LeufsTer2
NM_014985.4:c.2679del NP_055800.2:p.Ser894LeufsTer2
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