Canonical Allele Identifier: CA645514935

Gene: CUL3

Linked Data

• ClinVar Variation Id: 974891
• ClinVar RCV Id: RCV001251184 ; RCV003151844
• dbSNP Id: rs1366667901
• gnomAD v4: 2-224503670-G-GT
• COSMIC: COSM4603903 ; COSM5513938

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.224503677dup , CM000664.2:g.224503677dup	GRCh38
NC_000002.11:g.225368394dup , CM000664.1:g.225368394dup	GRCh37
NC_000002.10:g.225076638dup	NCBI36
NG_032169.1:g.86727dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264414.9:c.1358dup MANE Select	ENSP00000264414.4:p.Asn453LysfsTer5
ENST00000264414.8:c.1358dup	ENSP00000264414.4:p.Asn453LysfsTer5
ENST00000344951.8:c.1160dup	ENSP00000343601.4:p.Asn387LysfsTer5
ENST00000409096.5:c.1286dup	ENSP00000387200.1:p.Asn429LysfsTer5
ENST00000409777.5:c.1286dup	ENSP00000386525.1:p.Asn429LysfsTer5
ENST00000481135.1:n.654dup
ENST00000617432.4:c.80dup
NM_001257197.1:c.1160dup	NP_001244126.1:p.Asn387LysfsTer5
NM_001257198.1:c.1376dup	NP_001244127.1:p.Asn459LysfsTer5
NM_003590.4:c.1358dup	NP_003581.1:p.Asn453LysfsTer5
XM_006712800.2:c.1325dup	XP_006712863.2:p.Asn442LysfsTer5
XM_011511994.1:c.1211dup	XP_011510296.1:p.Asn404LysfsTer5
XM_011511995.1:c.1316dup	XP_011510297.1:p.Asn439LysfsTer5
XM_011511996.1:c.1166dup	XP_011510298.1:p.Asn389LysfsTer5
XM_011511997.1:c.1058dup	XP_011510299.1:p.Asn353LysfsTer5
XM_011511994.3:c.1211dup	XP_011510296.1:p.Asn404LysfsTer5
XM_011511996.2:c.1166dup	XP_011510298.1:p.Asn389LysfsTer5
NM_003590.5:c.1358dup MANE Select	NP_003581.1:p.Asn453LysfsTer5
NM_001257198.2:c.1376dup	NP_001244127.1:p.Asn459LysfsTer5
NM_001257197.2:c.1160dup	NP_001244126.1:p.Asn387LysfsTer5