Canonical Allele Identifier: CA7745150

Gene: VPS33B

Linked Data

• ClinVar Variation Id: 261045
• ClinVar RCV Id: RCV000245562 ; RCV000405825 ; RCV001636804
• dbSNP Id: rs111274092
• ExAC: 15:91557674 GAA / G
• gnomAD v2: 15-91557674-GAA-G
• gnomAD v3: 15-91014444-GAA-G
• gnomAD v4: 15-91014444-GAA-G
• MyVariant Identifiers: chr15:g.91557675_91557676del (hg19) ; chr15:g.91014446_91014447del (hg38) ; chr15:g.91014445_91014446del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91014446_91014447del , CM000677.2:g.91014446_91014447del	GRCh38
NC_000015.9:g.91557676_91557677del , CM000677.1:g.91557676_91557677del	GRCh37
NC_000015.8:g.89358680_89358681del	NCBI36
NG_012162.1:g.13158_13159del , LRG_884:g.13158_13159del

Transcript Alleles

HGVS	Amino-acid change
ENST00000333371.8:c.240-13_240-12del MANE Select	ENSP00000327650.4:n.240-13_240-12del
ENST00000643536.1:c.240-13_240-12del	ENSP00000494429.1:n.240-13_240-12del
ENST00000647331.1:c.240-13_240-12del	ENSP00000493953.1:n.240-13_240-12del
ENST00000333371.7:c.240-13_240-12del	ENSP00000327650.3:n.240-13_240-12del
ENST00000535906.1:c.159-13_159-12del	ENSP00000444053.1:n.159-13_159-12del
ENST00000554264.5:n.163-13_163-12del
ENST00000556096.6:n.634-13_634-12del
ENST00000557358.1:n.444-13_444-12del
ENST00000574755.5:c.178-13_178-12del	ENSP00000460413.1:n.178-13_178-12del
NM_001289148.1:c.159-13_159-12del	NP_001276077.1:n.159-13_159-12del
NM_001289149.1:c.-34-13_-34-12del	NP_001276078.1:n.-34-13_-34-12del
NM_018668.4:c.240-13_240-12del , LRG_884t1:c.240-13_240-12del	NP_061138.3:n.240-13_240-12del
XM_005254884.2:c.240-13_240-12del	XP_005254941.1:n.240-13_240-12del
XM_005254887.1:c.-34-13_-34-12del	XP_005254944.1:n.-34-13_-34-12del
XM_005254888.2:c.240-13_240-12del	XP_005254945.1:n.240-13_240-12del
XM_011521448.1:c.-34-13_-34-12del	XP_011519750.1:n.-34-13_-34-12del
XM_017022075.2:c.-122-13_-122-12del	XP_016877564.1:n.-122-13_-122-12del
XM_017022076.1:c.-122-13_-122-12del	XP_016877565.1:n.-122-13_-122-12del
XR_001751213.2:n.576-13_576-12del
NM_018668.5:c.240-13_240-12del MANE Select	NP_061138.3:n.240-13_240-12del