Canonical Allele Identifier: CA2580613333

Gene: VPS33B

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91007912_91007914del , CM000677.2:g.91007912_91007914del	GRCh38
NC_000015.9:g.91551142_91551144del , CM000677.1:g.91551142_91551144del	GRCh37
NC_000015.8:g.89352146_89352148del	NCBI36
NG_012162.1:g.19693_19695del , LRG_884:g.19693_19695del

Transcript Alleles

HGVS	Amino-acid Change
NM_018668.5:c.457_459del MANE Select	NP_061138.3:p.Leu153del
ENST00000333371.8:c.457_459del MANE Select	ENSP00000327650.4:p.Leu153del
NM_001289148.1:c.376_378del	NP_001276077.1:p.Leu126del
NM_001289149.1:c.184_186del	NP_001276078.1:p.Leu62del
NM_018668.4:c.457_459del , LRG_884t1:c.457_459del	NP_061138.3:p.Leu153del
ENST00000333371.7:c.457_459del	ENSP00000327650.3:p.Leu153del
ENST00000535906.1:c.376_378del	ENSP00000444053.1:p.Leu126del
ENST00000554264.5:n.380_382del
ENST00000556096.6:n.851_853del
ENST00000574755.5:c.*152_*154del	ENSP00000460413.1:n.*152_*154del
ENST00000643536.1:c.457_459del	ENSP00000494429.1:p.Leu153del
ENST00000647331.1:c.457_459del	ENSP00000493953.1:p.Leu153del
XM_005254884.2:c.457_459del	XP_005254941.1:p.Leu153del
XM_005254887.1:c.184_186del	XP_005254944.1:p.Leu62del
XM_005254888.2:c.457_459del	XP_005254945.1:p.Leu153del
XM_011521448.1:c.184_186del	XP_011519750.1:p.Leu62del
XM_011521449.1:c.133_135del	XP_011519751.1:p.Leu45del
XM_011521449.2:c.133_135del	XP_011519751.1:p.Leu45del
XM_017022075.2:c.112_114del	XP_016877564.1:p.Leu38del
XM_017022076.1:c.112_114del	XP_016877565.1:p.Leu38del
XR_001751213.2:n.793_795del