Canonical Allele Identifier: CA462463835

Gene: VPS13B

Linked Data

• COSMIC: COSM1685641 ; COSM1685642
• MyVariant Identifiers: chr8:g.100133469del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99121242del , CM000670.2:g.99121242del	GRCh38
NC_000008.10:g.100133470del , CM000670.1:g.100133470del	GRCh37
NC_000008.9:g.100202646del	NCBI36
NG_007098.2:g.112977del , LRG_351:g.112977del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355155.6:c.1003del	ENSP00000347281.2:p.Ser335HisfsTer23
ENST00000682145.1:n.1072del
ENST00000682153.1:c.1003del	ENSP00000507923.1:p.Ser335HisfsTer23
ENST00000682234.1:c.1003del	ENSP00000508225.1:p.Ser335HisfsTer23
ENST00000682358.1:n.1073del
ENST00000682853.1:n.1223del
ENST00000683334.1:c.1003del	ENSP00000507369.1:p.Ser335HisfsTer23
ENST00000683486.1:n.1069del
ENST00000683619.1:n.1106del
ENST00000683869.1:n.1084del
ENST00000684269.1:n.1104del
ENST00000684308.1:n.1069del
ENST00000357162.7:c.1003del MANE Select	ENSP00000349685.2:p.Ser335HisfsTer23
ENST00000358544.7:c.1003del MANE Plus Clinical	ENSP00000351346.2:p.Ser335HisfsTer23
ENST00000355155.5:c.1003del	ENSP00000347281.1:p.Ser335HisfsTer23
ENST00000357162.6:c.1003del	ENSP00000349685.2:p.Ser335HisfsTer23
ENST00000358544.6:c.1003del	ENSP00000351346.2:p.Ser335HisfsTer23
ENST00000441350.2:c.1003del	ENSP00000398472.2:p.Ser335HisfsTer23
ENST00000496144.5:c.1003del	ENSP00000430900.1:p.Ser335HisfsTer23
ENST00000524330.1:n.128del
NM_015243.2:c.1003del , LRG_351t3:c.1003del	NP_056058.2:p.Ser335HisfsTer23
NM_017890.4:c.1003del , LRG_351t1:c.1003del	NP_060360.3:p.Ser335HisfsTer23
NM_152564.4:c.1003del , LRG_351t2:c.1003del	NP_689777.3:p.Ser335HisfsTer23
NM_181661.2:c.1003del , LRG_351t4:c.1003del	NP_858047.2:p.Ser335HisfsTer23
NR_047582.1:n.1229del
XM_005250800.2:c.1003del	XP_005250857.1:p.Ser335HisfsTer23
XM_005250801.3:c.1003del	XP_005250858.1:p.Ser335HisfsTer23
XM_006716510.2:c.1003del	XP_006716573.1:p.Ser335HisfsTer23
XM_006716511.2:c.1003del	XP_006716574.1:p.Ser335HisfsTer23
XM_011516848.1:c.1003del	XP_011515150.1:p.Ser335HisfsTer23
XM_011516849.1:c.1003del	XP_011515151.1:p.Ser335HisfsTer23
XM_011516850.1:c.625del	XP_011515152.1:p.Ser209HisfsTer23
XM_011516853.1:c.1003del	XP_011515155.1:p.Ser335HisfsTer23
XM_011516855.1:c.1003del	XP_011515157.1:p.Ser335HisfsTer23
XM_011516856.1:c.1003del	XP_011515158.1:p.Ser335HisfsTer23
XM_011516857.1:c.1003del	XP_011515159.1:p.Ser335HisfsTer23
XM_011516858.1:c.1003del	XP_011515160.1:p.Ser335HisfsTer23
XM_011516859.1:c.1003del	XP_011515161.1:p.Ser335HisfsTer23
XM_011516860.1:c.1003del	XP_011515162.1:p.Ser335HisfsTer23
XM_011516861.1:c.1003del	XP_011515163.1:p.Ser335HisfsTer23
XM_011516862.1:c.1003del	XP_011515164.1:p.Ser335HisfsTer23
XM_011516863.1:c.1003del	XP_011515165.1:p.Ser335HisfsTer23
XM_011516864.1:c.1003del	XP_011515166.1:p.Ser335HisfsTer23
XM_011516865.1:c.1003del	XP_011515167.1:p.Ser335HisfsTer23
XM_011516866.1:c.1003del	XP_011515168.1:p.Ser335HisfsTer23
XR_928301.1:n.1106del
XR_928302.1:n.1106del
XR_928303.1:n.1106del
XR_928304.1:n.1106del
XM_005250800.3:c.1003del	XP_005250857.1:p.Ser335HisfsTer23
XM_005250801.5:c.1003del	XP_005250858.1:p.Ser335HisfsTer23
XM_006716510.3:c.1003del	XP_006716573.1:p.Ser335HisfsTer23
XM_011516848.2:c.1003del	XP_011515150.1:p.Ser335HisfsTer23
XM_011516849.2:c.1003del	XP_011515151.1:p.Ser335HisfsTer23
XM_011516850.2:c.625del	XP_011515152.1:p.Ser209HisfsTer23
XM_011516853.2:c.1003del	XP_011515155.1:p.Ser335HisfsTer23
XM_011516859.2:c.1003del	XP_011515161.1:p.Ser335HisfsTer23
XM_011516866.2:c.1003del	XP_011515168.1:p.Ser335HisfsTer23
XM_017013109.1:c.1003del	XP_016868598.1:p.Ser335HisfsTer23
XM_024447074.1:c.-325del	XP_024302842.1:n.-325del
XM_024447075.1:c.1003del	XP_024302843.1:p.Ser335HisfsTer23
XR_001745481.1:n.1106del
XR_001745482.2:n.1106del
XR_001745484.2:n.1106del
XR_002956601.1:n.1106del
XR_002956602.1:n.1106del
XR_928302.2:n.1106del
NM_015243.3:c.1003del	NP_056058.2:p.Ser335HisfsTer23
NM_017890.5:c.1003del MANE Plus Clinical	NP_060360.3:p.Ser335HisfsTer23
NM_152564.5:c.1003del MANE Select	NP_689777.3:p.Ser335HisfsTer23
NM_181661.3:c.1003del	NP_858047.2:p.Ser335HisfsTer23
NR_047582.2:n.1221del