Canonical Allele Identifier: CA2630423250

Gene: VPS33B

Linked Data

• gnomAD v4: 15-91000539-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91000541del , CM000677.2:g.91000541del	GRCh38
NC_000015.9:g.91543771del , CM000677.1:g.91543771del	GRCh37
NC_000015.8:g.89344775del	NCBI36
NG_012162.1:g.27064del , LRG_884:g.27064del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333371.8:c.1531del MANE Select	ENSP00000327650.4:p.Tyr511ThrfsTer10
ENST00000643536.1:c.1531del	ENSP00000494429.1:p.Tyr511ThrfsTer10
ENST00000647331.1:c.1531del	ENSP00000493953.1:p.Tyr511ThrfsTer10
ENST00000333371.7:c.1531del	ENSP00000327650.3:p.Tyr511ThrfsTer10
ENST00000535906.1:c.1450del	ENSP00000444053.1:p.Tyr484ThrfsTer10
ENST00000554660.1:n.466del
ENST00000557470.5:n.97del
ENST00000574755.5:c.*1226del	ENSP00000460413.1:n.*1226del
NM_001289148.1:c.1450del	NP_001276077.1:p.Tyr484ThrfsTer10
NM_001289149.1:c.1258del	NP_001276078.1:p.Tyr420ThrfsTer10
NM_018668.4:c.1531del , LRG_884t1:c.1531del	NP_061138.3:p.Tyr511ThrfsTer10
XM_005254884.2:c.1453del	XP_005254941.1:p.Tyr485ThrfsTer10
XM_005254887.1:c.1258del	XP_005254944.1:p.Tyr420ThrfsTer10
XM_011521448.1:c.1258del	XP_011519750.1:p.Tyr420ThrfsTer10
XM_011521449.1:c.1207del	XP_011519751.1:p.Tyr403ThrfsTer10
XM_011521449.2:c.1207del	XP_011519751.1:p.Tyr403ThrfsTer10
XM_017022075.2:c.1186del	XP_016877564.1:p.Tyr396ThrfsTer10
XM_017022076.1:c.1186del	XP_016877565.1:p.Tyr396ThrfsTer10
XR_001751213.2:n.2029del
NM_018668.5:c.1531del MANE Select	NP_061138.3:p.Tyr511ThrfsTer10