Canonical Allele Identifier: CA972735224

Gene: VPS33B

Linked Data

• dbSNP Id: rs2041126481
• gnomAD v3: 15-91022247-C-CATG
• gnomAD v4: 15-91022247-C-CATG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91022248_91022250dup , CM000677.2:g.91022248_91022250dup	GRCh38
NC_000015.9:g.91565478_91565480dup , CM000677.1:g.91565478_91565480dup	GRCh37
NC_000015.8:g.89366482_89366484dup	NCBI36
NG_012162.1:g.5354_5356dup , LRG_884:g.5354_5356dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333371.8:c.-1_2dup MANE Select	ENSP00000327650.4:p.Met1insIle
ENST00000643536.1:c.-1_2dup	ENSP00000494429.1:p.Met1insIle
ENST00000647331.1:c.-1_2dup	ENSP00000493953.1:p.Met1insIle
ENST00000333371.7:c.-1_2dup	ENSP00000327650.3:p.Met1insIle
ENST00000535906.1:c.-1_2dup	ENSP00000444053.1:p.Met1insIle
ENST00000556096.6:n.354_356dup
ENST00000557358.1:n.347_349dup
ENST00000574755.5:c.-1_2dup	ENSP00000460413.1:p.Met1insIle
NM_001289148.1:c.-1_2dup	NP_001276077.1:p.Met1insIle
NM_001289149.1:c.-212_-210dup	NP_001276078.1:n.-212_-210dup
NM_018668.4:c.-1_2dup , LRG_884t1:c.-1_2dup	NP_061138.3:p.Met1insIle
XM_005254884.2:c.-1_2dup	XP_005254941.1:p.Met1insIle
XM_005254887.1:c.-131_-129dup	XP_005254944.1:n.-131_-129dup
XM_005254888.2:c.-1_2dup	XP_005254945.1:p.Met1insIle
XM_011521448.1:c.-314_-312dup	XP_011519750.1:n.-314_-312dup
XM_017022075.2:c.-362_-360dup	XP_016877564.1:n.-362_-360dup
XM_017022076.1:c.-219_-217dup	XP_016877565.1:n.-219_-217dup
XR_001751213.2:n.336_338dup
NM_018668.5:c.-1_2dup MANE Select	NP_061138.3:p.Met1insIle