Canonical Allele Identifier: CA539863150

Gene: CUL3

Linked Data

• ClinVar Variation Id: 1925139
• ClinVar RCV Id: RCV002618025
• dbSNP Id: rs1366667901
• gnomAD v2: 2-225368387-GT-G
• gnomAD v4: 2-224503670-GT-G
• MyVariant Identifiers: chr2:g.225368388del (hg19) ; chr2:g.224503671del (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264414.9:c.1358del MANE Select	ENSP00000264414.4:p.Asn453ThrfsTer2
ENST00000264414.8:c.1358del	ENSP00000264414.4:p.Asn453ThrfsTer2
ENST00000344951.8:c.1160del	ENSP00000343601.4:p.Asn387ThrfsTer2
ENST00000409096.5:c.1286del	ENSP00000387200.1:p.Asn429ThrfsTer2
ENST00000409777.5:c.1286del	ENSP00000386525.1:p.Asn429ThrfsTer2
ENST00000481135.1:n.654del
ENST00000617432.4:c.80del
NM_001257197.1:c.1160del	NP_001244126.1:p.Asn387ThrfsTer2
NM_001257198.1:c.1376del	NP_001244127.1:p.Asn459ThrfsTer2
NM_003590.4:c.1358del	NP_003581.1:p.Asn453ThrfsTer2
XM_006712800.2:c.1325del	XP_006712863.2:p.Asn442ThrfsTer2
XM_011511994.1:c.1211del	XP_011510296.1:p.Asn404ThrfsTer2
XM_011511995.1:c.1316del	XP_011510297.1:p.Asn439ThrfsTer2
XM_011511996.1:c.1166del	XP_011510298.1:p.Asn389ThrfsTer2
XM_011511997.1:c.1058del	XP_011510299.1:p.Asn353ThrfsTer2
XM_011511994.3:c.1211del	XP_011510296.1:p.Asn404ThrfsTer2
XM_011511996.2:c.1166del	XP_011510298.1:p.Asn389ThrfsTer2
NM_003590.5:c.1358del MANE Select	NP_003581.1:p.Asn453ThrfsTer2
NM_001257198.2:c.1376del	NP_001244127.1:p.Asn459ThrfsTer2
NM_001257197.2:c.1160del	NP_001244126.1:p.Asn387ThrfsTer2