Canonical Allele Identifier: CA2697550079

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 2755943
• ClinVar RCV Id: RCV003498483

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868371dup , CM000670.2:g.99868371dup	GRCh38
NC_000008.10:g.100880599dup , CM000670.1:g.100880599dup	GRCh37
NC_000008.9:g.100949775dup	NCBI36
NG_007098.2:g.860106dup , LRG_351:g.860106dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*467dup	ENSP00000507923.1:n.*467dup
ENST00000682358.1:n.11443dup
ENST00000683334.1:c.*7055dup	ENSP00000507369.1:n.*7055dup
ENST00000357162.7:c.11298dup MANE Select	ENSP00000349685.2:p.Lys3767GlnfsTer24
ENST00000358544.7:c.11373dup MANE Plus Clinical	ENSP00000351346.2:p.Lys3792GlnfsTer24
ENST00000357162.6:c.11298dup	ENSP00000349685.2:p.Lys3767GlnfsTer24
ENST00000358544.6:c.11373dup	ENSP00000351346.2:p.Lys3792GlnfsTer24
ENST00000493587.1:n.315dup
NM_017890.4:c.11373dup , LRG_351t1:c.11373dup	NP_060360.3:p.Lys3792GlnfsTer24
NM_152564.4:c.11298dup , LRG_351t2:c.11298dup	NP_689777.3:p.Lys3767GlnfsTer24
XM_005250800.2:c.11373dup	XP_005250857.1:p.Lys3792GlnfsTer24
XM_005250801.3:c.11373dup	XP_005250858.1:p.Lys3792GlnfsTer24
XM_011516848.1:c.11370dup	XP_011515150.1:p.Lys3791GlnfsTer24
XM_011516849.1:c.11295dup	XP_011515151.1:p.Lys3766GlnfsTer24
XM_011516850.1:c.10995dup	XP_011515152.1:p.Lys3666GlnfsTer24
XM_011516851.1:c.8259dup	XP_011515153.1:p.Lys2754GlnfsTer24
XM_011516852.1:c.8259dup	XP_011515154.1:p.Lys2754GlnfsTer24
XM_011516854.1:c.7152dup	XP_011515156.1:p.Lys2385GlnfsTer24
XM_005250800.3:c.11373dup	XP_005250857.1:p.Lys3792GlnfsTer24
XM_005250801.5:c.11373dup	XP_005250858.1:p.Lys3792GlnfsTer24
XM_011516848.2:c.11370dup	XP_011515150.1:p.Lys3791GlnfsTer24
XM_011516849.2:c.11295dup	XP_011515151.1:p.Lys3766GlnfsTer24
XM_011516850.2:c.10995dup	XP_011515152.1:p.Lys3666GlnfsTer24
XM_011516851.2:c.8259dup	XP_011515153.1:p.Lys2754GlnfsTer24
XM_011516852.2:c.8259dup	XP_011515154.1:p.Lys2754GlnfsTer24
XM_011516854.2:c.7152dup	XP_011515156.1:p.Lys2385GlnfsTer24
XM_017013109.1:c.11178dup	XP_016868598.1:p.Lys3727GlnfsTer24
XM_017013111.1:c.8259dup	XP_016868600.1:p.Lys2754GlnfsTer24
XM_017013112.1:c.6930dup	XP_016868601.1:p.Lys2311GlnfsTer24
XM_024447074.1:c.10158dup	XP_024302842.1:p.Lys3387GlnfsTer24
NM_017890.5:c.11373dup MANE Plus Clinical	NP_060360.3:p.Lys3792GlnfsTer24
NM_152564.5:c.11298dup MANE Select	NP_689777.3:p.Lys3767GlnfsTer24