Canonical Allele Identifier: CA242065704
Community Standard Title: NM_016122.3(CEP83):c.549+218del
Gene: CEP83 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.94400635del , CM000674.2:g.94400635del GRCh38
NC_000012.11:g.94794411del , CM000674.1:g.94794411del GRCh37
NC_000012.10:g.93318542del NCBI36
NG_051825.1:g.64357del

Transcript Alleles

HGVS Amino-acid Change
NM_016122.3:c.549+218del MANE Select NP_057206.2:n.549+218del
ENST00000397809.10:c.549+218del MANE Select ENSP00000380911.4:n.549+218del
NM_001042399.1:c.549+218del NP_001035858.1:n.549+218del
NM_001042399.2:c.549+218del NP_001035858.1:n.549+218del
NM_001346457.1:c.549+218del NP_001333386.1:n.549+218del
NM_001346457.2:c.549+218del NP_001333386.1:n.549+218del
NM_001346458.1:c.237+218del NP_001333387.1:n.237+218del
NM_001346458.2:c.237+218del NP_001333387.1:n.237+218del
NM_001346459.1:c.237+218del NP_001333388.1:n.237+218del
NM_001346459.2:c.237+218del NP_001333388.1:n.237+218del
NM_001346460.1:c.549+218del NP_001333389.1:n.549+218del
NM_001346460.2:c.549+218del NP_001333389.1:n.549+218del
NM_001346461.1:c.549+218del NP_001333390.1:n.549+218del
NM_001346461.2:c.549+218del NP_001333390.1:n.549+218del
NM_001346462.1:c.237+218del NP_001333391.1:n.237+218del
NM_001346462.2:c.237+218del NP_001333391.1:n.237+218del
NM_001368037.1:c.549+218del NP_001354966.1:n.549+218del
NM_001368038.1:c.549+218del NP_001354967.1:n.549+218del
NM_001368039.1:c.237+218del NP_001354968.1:n.237+218del
NM_001368040.1:c.237+218del NP_001354969.1:n.237+218del
NM_001368041.1:c.324+11065del NP_001354970.1:n.324+11065del
NM_001368042.1:c.12+11065del NP_001354971.1:n.12+11065del
NM_016122.2:c.549+218del NP_057206.2:n.549+218del
NR_144441.1:n.1020+218del
NR_144441.2:n.899+218del
NR_160431.1:n.815+218del
NR_160432.1:n.1302+218del
ENST00000339839.9:c.549+218del ENSP00000344655.5:n.549+218del
ENST00000397807.6:c.162+218del ENSP00000380909.3:n.162+218del
ENST00000397809.9:c.549+218del ENSP00000380911.4:n.549+218del
ENST00000547232.5:c.450+218del ENSP00000447783.1:n.450+218del
ENST00000547575.5:c.549+218del ENSP00000448913.1:n.549+218del
ENST00000549352.1:n.393+218del
ENST00000551250.1:n.272+218del
XM_005268942.1:c.549+218del XP_005268999.1:n.549+218del
XM_006719437.1:c.549+218del XP_006719500.1:n.549+218del
XM_011538424.1:c.549+218del XP_011536726.1:n.549+218del
XM_011538424.2:c.549+218del XP_011536726.1:n.549+218del
XM_011538425.1:c.549+218del XP_011536727.1:n.549+218del
XM_011538426.1:c.549+218del XP_011536728.1:n.549+218del
XM_011538427.1:c.237+218del XP_011536729.1:n.237+218del
XM_011538428.1:c.162+218del XP_011536730.1:n.162+218del
XM_011538429.1:c.135+218del XP_011536731.1:n.135+218del
XM_011538430.1:c.549+218del XP_011536732.1:n.549+218del
XM_017019385.2:c.549+218del XP_016874874.1:n.549+218del
XM_017019386.2:c.549+218del XP_016874875.1:n.549+218del
XM_017019388.1:c.180+218del XP_016874877.1:n.180+218del
XM_017019389.2:c.162+218del XP_016874878.1:n.162+218del
XM_024449002.1:c.549+218del XP_024304770.1:n.549+218del
XM_024449003.1:c.180+218del XP_024304771.1:n.180+218del
XM_024449004.1:c.180+218del XP_024304772.1:n.180+218del
XM_024449005.1:c.135+218del XP_024304773.1:n.135+218del
XM_024449006.1:c.-226+218del XP_024304774.1:n.-226+218del
XM_024449007.1:c.-226+218del XP_024304775.1:n.-226+218del
XR_001748731.2:n.1098+218del
XR_001748732.2:n.1098+218del
XR_001748733.2:n.1098+218del
XR_001748734.2:n.1098+218del
XR_001748735.2:n.1098+218del
XR_001748736.2:n.1098+218del
XR_001748737.2:n.1098+218del
XR_001748739.2:n.1098+218del
XR_002957332.1:n.1098+218del
XR_002957333.1:n.1511+218del
XR_944562.1:n.1076+218del
XR_944563.1:n.1076+218del
XR_944564.1:n.1076+218del
XR_944565.1:n.1076+218del
XR_944566.1:n.1076+218del
XR_944567.1:n.1076+218del
XR_944568.1:n.1076+218del
XR_944569.1:n.1076+218del