Canonical Allele Identifier: CA717051460

Gene: VPS33B

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91000562dup , CM000677.2:g.91000562dup	GRCh38
NC_000015.9:g.91543792dup , CM000677.1:g.91543792dup	GRCh37
NC_000015.8:g.89344796dup	NCBI36
NG_012162.1:g.27042dup , LRG_884:g.27042dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333371.8:c.1509dup MANE Select	ENSP00000327650.4:p.Lys504GlufsTer23
ENST00000643536.1:c.1509dup	ENSP00000494429.1:p.Lys504GlufsTer23
ENST00000647331.1:c.1509dup	ENSP00000493953.1:p.Lys504GlufsTer23
ENST00000333371.7:c.1509dup	ENSP00000327650.3:p.Lys504GlufsTer23
ENST00000535906.1:c.1428dup	ENSP00000444053.1:p.Lys477GlufsTer23
ENST00000554660.1:n.444dup
ENST00000557470.5:n.75dup
ENST00000574755.5:c.*1204dup	ENSP00000460413.1:n.*1204dup
NM_001289148.1:c.1428dup	NP_001276077.1:p.Lys477GlufsTer23
NM_001289149.1:c.1236dup	NP_001276078.1:p.Lys413GlufsTer23
NM_018668.4:c.1509dup , LRG_884t1:c.1509dup	NP_061138.3:p.Lys504GlufsTer23
XM_005254884.2:c.1431dup	XP_005254941.1:p.Lys478GlufsTer23
XM_005254887.1:c.1236dup	XP_005254944.1:p.Lys413GlufsTer23
XM_011521448.1:c.1236dup	XP_011519750.1:p.Lys413GlufsTer23
XM_011521449.1:c.1185dup	XP_011519751.1:p.Lys396GlufsTer23
XM_011521449.2:c.1185dup	XP_011519751.1:p.Lys396GlufsTer23
XM_017022075.2:c.1164dup	XP_016877564.1:p.Lys389GlufsTer23
XM_017022076.1:c.1164dup	XP_016877565.1:p.Lys389GlufsTer23
XR_001751213.2:n.2007dup
NM_018668.5:c.1509dup MANE Select	NP_061138.3:p.Lys504GlufsTer23