Canonical Allele Identifier: CA2630425564
Gene: VPS33B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.91014409del , CM000677.2:g.91014409del GRCh38
NC_000015.9:g.91557639del , CM000677.1:g.91557639del GRCh37
NC_000015.8:g.89358643del NCBI36
NG_012162.1:g.13195del , LRG_884:g.13195del

Transcript Alleles

HGVS Amino-acid Change
ENST00000333371.8:c.264del MANE Select ENSP00000327650.4:p.Ile89SerfsTer25
ENST00000643536.1:c.264del ENSP00000494429.1:p.Ile89SerfsTer25
ENST00000647331.1:c.264del ENSP00000493953.1:p.Ile89SerfsTer25
ENST00000333371.7:c.264del ENSP00000327650.3:p.Ile89SerfsTer25
ENST00000535906.1:c.183del ENSP00000444053.1:p.Ile62SerfsTer25
ENST00000554264.5:n.187del
ENST00000556096.6:n.658del
ENST00000557358.1:n.468del
ENST00000574755.5:c.202del ENSP00000460413.1:p.His68IlefsTer?
NM_001289148.1:c.183del NP_001276077.1:p.Ile62SerfsTer25
NM_001289149.1:c.-10del NP_001276078.1:n.-10del
NM_018668.4:c.264del , LRG_884t1:c.264del NP_061138.3:p.Ile89SerfsTer25
XM_005254884.2:c.264del XP_005254941.1:p.Ile89SerfsTer25
XM_005254887.1:c.-10del XP_005254944.1:n.-10del
XM_005254888.2:c.264del XP_005254945.1:p.Ile89SerfsTer25
XM_011521448.1:c.-10del XP_011519750.1:n.-10del
XM_017022075.2:c.-98del XP_016877564.1:n.-98del
XM_017022076.1:c.-98del XP_016877565.1:n.-98del
XR_001751213.2:n.600del
NM_018668.5:c.264del MANE Select NP_061138.3:p.Ile89SerfsTer25