Canonical Allele Identifier: CA658821917

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 550889
• ClinVar RCV Id: RCV000665769 ; RCV002252202
• dbSNP Id: rs1347701279
• gnomAD v4: 8-99868308-TG-T
• MyVariant Identifiers: chr8:g.100880537del (hg19) ; chr8:g.99868309del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868309del , CM000670.2:g.99868309del	GRCh38
NC_000008.10:g.100880537del , CM000670.1:g.100880537del	GRCh37
NC_000008.9:g.100949713del	NCBI36
NG_007098.2:g.860044del , LRG_351:g.860044del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*405del	ENSP00000507923.1:n.*405del
ENST00000682358.1:n.11381del
ENST00000683334.1:c.*6993del	ENSP00000507369.1:n.*6993del
ENST00000357162.7:c.11236del MANE Select	ENSP00000349685.2:p.Asp3746IlefsTer?
ENST00000358544.7:c.11311del MANE Plus Clinical	ENSP00000351346.2:p.Asp3771IlefsTer?
ENST00000357162.6:c.11236del	ENSP00000349685.2:p.Asp3746IlefsTer?
ENST00000358544.6:c.11311del	ENSP00000351346.2:p.Asp3771IlefsTer?
ENST00000493587.1:n.253del
NM_017890.4:c.11311del , LRG_351t1:c.11311del	NP_060360.3:p.Asp3771IlefsTer?
NM_152564.4:c.11236del , LRG_351t2:c.11236del	NP_689777.3:p.Asp3746IlefsTer?
XM_005250800.2:c.11311del	XP_005250857.1:p.Asp3771IlefsTer?
XM_005250801.3:c.11311del	XP_005250858.1:p.Asp3771IlefsTer?
XM_011516848.1:c.11308del	XP_011515150.1:p.Asp3770IlefsTer?
XM_011516849.1:c.11233del	XP_011515151.1:p.Asp3745IlefsTer?
XM_011516850.1:c.10933del	XP_011515152.1:p.Asp3645IlefsTer?
XM_011516851.1:c.8197del	XP_011515153.1:p.Asp2733IlefsTer?
XM_011516852.1:c.8197del	XP_011515154.1:p.Asp2733IlefsTer?
XM_011516854.1:c.7090del	XP_011515156.1:p.Asp2364IlefsTer?
XM_005250800.3:c.11311del	XP_005250857.1:p.Asp3771IlefsTer?
XM_005250801.5:c.11311del	XP_005250858.1:p.Asp3771IlefsTer?
XM_011516848.2:c.11308del	XP_011515150.1:p.Asp3770IlefsTer?
XM_011516849.2:c.11233del	XP_011515151.1:p.Asp3745IlefsTer?
XM_011516850.2:c.10933del	XP_011515152.1:p.Asp3645IlefsTer?
XM_011516851.2:c.8197del	XP_011515153.1:p.Asp2733IlefsTer?
XM_011516852.2:c.8197del	XP_011515154.1:p.Asp2733IlefsTer?
XM_011516854.2:c.7090del	XP_011515156.1:p.Asp2364IlefsTer?
XM_017013109.1:c.11116del	XP_016868598.1:p.Asp3706IlefsTer?
XM_017013111.1:c.8197del	XP_016868600.1:p.Asp2733IlefsTer?
XM_017013112.1:c.6868del	XP_016868601.1:p.Asp2290IlefsTer?
XM_024447074.1:c.10096del	XP_024302842.1:p.Asp3366IlefsTer?
NM_017890.5:c.11311del MANE Plus Clinical	NP_060360.3:p.Asp3771IlefsTer?
NM_152564.5:c.11236del MANE Select	NP_689777.3:p.Asp3746IlefsTer?