Canonical Allele Identifier: CA2697550485
Gene: CUL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2769100
ClinVar RCV Id: RCV003578596

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.224503669del , CM000664.2:g.224503669del GRCh38
NC_000002.11:g.225368386del , CM000664.1:g.225368386del GRCh37
NC_000002.10:g.225076630del NCBI36
NG_032169.1:g.86729del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264414.9:c.1360del MANE Select ENSP00000264414.4:p.Met454Ter
ENST00000264414.8:c.1360del ENSP00000264414.4:p.Met454Ter
ENST00000344951.8:c.1162del ENSP00000343601.4:p.Met388Ter
ENST00000409096.5:c.1288del ENSP00000387200.1:p.Met430Ter
ENST00000409777.5:c.1288del ENSP00000386525.1:p.Met430Ter
ENST00000481135.1:n.656del
ENST00000617432.4:c.82del ENSP00000477851.1:p.Met28Ter
NM_001257197.1:c.1162del NP_001244126.1:p.Met388Ter
NM_001257198.1:c.1378del NP_001244127.1:p.Met460Ter
NM_003590.4:c.1360del NP_003581.1:p.Met454Ter
XM_006712800.2:c.1327del XP_006712863.2:p.Met443Ter
XM_011511994.1:c.1213del XP_011510296.1:p.Met405Ter
XM_011511995.1:c.1318del XP_011510297.1:p.Met440Ter
XM_011511996.1:c.1168del XP_011510298.1:p.Met390Ter
XM_011511997.1:c.1060del XP_011510299.1:p.Met354Ter
XM_011511994.3:c.1213del XP_011510296.1:p.Met405Ter
XM_011511996.2:c.1168del XP_011510298.1:p.Met390Ter
NM_003590.5:c.1360del MANE Select NP_003581.1:p.Met454Ter
NM_001257198.2:c.1378del NP_001244127.1:p.Met460Ter
NM_001257197.2:c.1162del NP_001244126.1:p.Met388Ter