Canonical Allele Identifier: CA915946132
Community Standard Title: NM_018668.5(VPS33B):c.558_559del (p.Tyr187TrpfsTer18)
Gene: VPS33B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.91007517_91007518del , CM000677.2:g.91007517_91007518del GRCh38
NC_000015.9:g.91550747_91550748del , CM000677.1:g.91550747_91550748del GRCh37
NC_000015.8:g.89351751_89351752del NCBI36
NG_012162.1:g.20090_20091del , LRG_884:g.20090_20091del

Transcript Alleles

HGVS Amino-acid Change
NM_018668.5:c.558_559del MANE Select NP_061138.3:p.Tyr187TrpfsTer18
ENST00000333371.8:c.558_559del MANE Select ENSP00000327650.4:p.Tyr187TrpfsTer18
NM_001289148.1:c.477_478del NP_001276077.1:p.Tyr160TrpfsTer18
NM_001289149.1:c.285_286del NP_001276078.1:p.Tyr96TrpfsTer18
NM_018668.4:c.558_559del , LRG_884t1:c.558_559del NP_061138.3:p.Tyr187TrpfsTer18
ENST00000333371.7:c.558_559del ENSP00000327650.3:p.Tyr187TrpfsTer18
ENST00000535906.1:c.477_478del ENSP00000444053.1:p.Tyr160TrpfsTer18
ENST00000556096.6:n.952_953del
ENST00000574755.5:c.*253_*254del ENSP00000460413.1:n.*253_*254del
ENST00000643536.1:c.558_559del ENSP00000494429.1:p.Tyr187TrpfsTer18
ENST00000647331.1:c.558_559del ENSP00000493953.1:p.Tyr187TrpfsTer18
XM_005254884.2:c.558_559del XP_005254941.1:p.Tyr187TrpfsTer18
XM_005254887.1:c.285_286del XP_005254944.1:p.Tyr96TrpfsTer18
XM_005254888.2:c.558_559del XP_005254945.1:p.Tyr187TrpfsTer18
XM_011521448.1:c.285_286del XP_011519750.1:p.Tyr96TrpfsTer18
XM_011521449.1:c.234_235del XP_011519751.1:p.Tyr79TrpfsTer18
XM_011521449.2:c.234_235del XP_011519751.1:p.Tyr79TrpfsTer18
XM_017022075.2:c.213_214del XP_016877564.1:p.Tyr72TrpfsTer18
XM_017022076.1:c.213_214del XP_016877565.1:p.Tyr72TrpfsTer18
XR_001751213.2:n.894_895del