Canonical Allele Identifier: CA717047898

Gene: VPS33B

Linked Data

• dbSNP Id: rs1237705819
• gnomAD v4: 15-91014446-AAG-A
• MyVariant Identifiers: chr15:g.91557677_91557678del (hg19) ; chr15:g.91014447_91014448del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91014448_91014449del , CM000677.2:g.91014448_91014449del	GRCh38
NC_000015.9:g.91557678_91557679del , CM000677.1:g.91557678_91557679del	GRCh37
NC_000015.8:g.89358682_89358683del	NCBI36
NG_012162.1:g.13156_13157del , LRG_884:g.13156_13157del

Transcript Alleles

HGVS	Amino-acid change
ENST00000333371.8:c.240-15_240-14del MANE Select	ENSP00000327650.4:n.240-15_240-14del
ENST00000643536.1:c.240-15_240-14del	ENSP00000494429.1:n.240-15_240-14del
ENST00000647331.1:c.240-15_240-14del	ENSP00000493953.1:n.240-15_240-14del
ENST00000333371.7:c.240-15_240-14del	ENSP00000327650.3:n.240-15_240-14del
ENST00000535906.1:c.159-15_159-14del	ENSP00000444053.1:n.159-15_159-14del
ENST00000554264.5:n.163-15_163-14del
ENST00000556096.6:n.634-15_634-14del
ENST00000557358.1:n.444-15_444-14del
ENST00000574755.5:c.178-15_178-14del	ENSP00000460413.1:n.178-15_178-14del
NM_001289148.1:c.159-15_159-14del	NP_001276077.1:n.159-15_159-14del
NM_001289149.1:c.-34-15_-34-14del	NP_001276078.1:n.-34-15_-34-14del
NM_018668.4:c.240-15_240-14del , LRG_884t1:c.240-15_240-14del	NP_061138.3:n.240-15_240-14del
XM_005254884.2:c.240-15_240-14del	XP_005254941.1:n.240-15_240-14del
XM_005254887.1:c.-34-15_-34-14del	XP_005254944.1:n.-34-15_-34-14del
XM_005254888.2:c.240-15_240-14del	XP_005254945.1:n.240-15_240-14del
XM_011521448.1:c.-34-15_-34-14del	XP_011519750.1:n.-34-15_-34-14del
XM_017022075.2:c.-122-15_-122-14del	XP_016877564.1:n.-122-15_-122-14del
XM_017022076.1:c.-122-15_-122-14del	XP_016877565.1:n.-122-15_-122-14del
XR_001751213.2:n.576-15_576-14del
NM_018668.5:c.240-15_240-14del MANE Select	NP_061138.3:n.240-15_240-14del