Canonical Allele Identifier: CA145381

Gene: VPS33B

Linked Data

• ClinVar Variation Id: 88857
• ClinVar RCV Id: RCV000074445
• dbSNP Id: rs1555460030
• MyVariant Identifiers: chr15:g.91557257_91558240del (hg19) ; chr15:g.91014027_91015010del (hg38)
• PubMed: PMID:22753090

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91014028_91015011del , CM000677.2:g.91014028_91015011del	GRCh38
NC_000015.9:g.91557258_91558241del , CM000677.1:g.91557258_91558241del	GRCh37
NC_000015.8:g.89358262_89359245del	NCBI36
NG_012162.1:g.12594_13577del , LRG_884:g.12594_13577del

Transcript Alleles

HGVS	Amino-acid change
ENST00000333371.8:c.240-577_290-156del
ENST00000643536.1:c.240-577_290-156del
ENST00000647331.1:c.240-577_290-156del
ENST00000333371.7:c.240-577_290-156del
ENST00000535906.1:c.159-577_209-156del
ENST00000554264.5:n.163-577_213-156del
ENST00000556096.6:n.634-577_684-156del
ENST00000557358.1:n.444-577_494-156del
ENST00000574755.5:c.178-577_228-156del
NM_001289148.1:c.159-577_209-156del
NM_001289149.1:c.-34-577_17-156del
NM_018668.4:c.240-577_290-156del , LRG_884t1:c.240-577_290-156del
XM_005254884.2:c.240-577_290-156del
XM_005254887.1:c.-34-577_17-156del
XM_005254888.2:c.240-577_290-156del
XM_011521448.1:c.-34-577_17-156del
XM_017022075.2:c.-122-577_-72-156del
XM_017022076.1:c.-122-577_-72-156del
XR_001751213.2:n.576-577_626-156del
NM_018668.5:c.240-577_290-156del