Canonical Allele Identifier: CA10605532

Gene: VPS33B

Linked Data

• ClinVar Variation Id: 286653
• ClinVar RCV Id: RCV000333604
• dbSNP Id: rs886043445
• MyVariant Identifiers: chr15:g.91543171del (hg19) ; chr15:g.90999941del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90999941del , CM000677.2:g.90999941del	GRCh38
NC_000015.9:g.91543171del , CM000677.1:g.91543171del	GRCh37
NC_000015.8:g.89344175del	NCBI36
NG_012162.1:g.27663del , LRG_884:g.27663del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333371.8:c.1616del MANE Select	ENSP00000327650.4:p.Glu539GlyfsTer16
ENST00000643536.1:c.1616del	ENSP00000494429.1:p.Glu539GlyfsTer16
ENST00000647331.1:c.1616del	ENSP00000493953.1:p.Glu539GlyfsTer16
ENST00000333371.7:c.1616del	ENSP00000327650.3:p.Glu539GlyfsTer16
ENST00000535906.1:c.1535del	ENSP00000444053.1:p.Glu512GlyfsTer16
ENST00000554660.1:n.551del
ENST00000557470.5:n.147+549del
ENST00000574755.5:c.*1311del	ENSP00000460413.1:n.*1311del
NM_001289148.1:c.1535del	NP_001276077.1:p.Glu512GlyfsTer16
NM_001289149.1:c.1343del	NP_001276078.1:p.Glu448GlyfsTer16
NM_018668.4:c.1616del , LRG_884t1:c.1616del	NP_061138.3:p.Glu539GlyfsTer16
XM_005254884.2:c.1538del	XP_005254941.1:p.Glu513GlyfsTer16
XM_005254887.1:c.1343del	XP_005254944.1:p.Glu448GlyfsTer16
XM_011521448.1:c.1343del	XP_011519750.1:p.Glu448GlyfsTer16
XM_011521449.1:c.1292del	XP_011519751.1:p.Glu431GlyfsTer16
XM_011521449.2:c.1292del	XP_011519751.1:p.Glu431GlyfsTer16
XM_017022075.2:c.1271del	XP_016877564.1:p.Glu424GlyfsTer16
XM_017022076.1:c.1271del	XP_016877565.1:p.Glu424GlyfsTer16
XR_001751213.2:n.2114del
NM_018668.5:c.1616del MANE Select	NP_061138.3:p.Glu539GlyfsTer16