Canonical Allele Identifier: CA2499219495

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 1073212
• ClinVar RCV Id: RCV001386140
• dbSNP Id: rs2130962934

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868325del , CM000670.2:g.99868325del	GRCh38
NC_000008.10:g.100880553del , CM000670.1:g.100880553del	GRCh37
NC_000008.9:g.100949729del	NCBI36
NG_007098.2:g.860060del , LRG_351:g.860060del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*421del	ENSP00000507923.1:n.*421del
ENST00000682358.1:n.11397del
ENST00000683334.1:c.*7009del	ENSP00000507369.1:n.*7009del
ENST00000357162.7:c.11252del MANE Select	ENSP00000349685.2:p.Asn3751ThrfsTer?
ENST00000358544.7:c.11327del MANE Plus Clinical	ENSP00000351346.2:p.Asn3776ThrfsTer?
ENST00000357162.6:c.11252del	ENSP00000349685.2:p.Asn3751ThrfsTer?
ENST00000358544.6:c.11327del	ENSP00000351346.2:p.Asn3776ThrfsTer?
ENST00000493587.1:n.269del
NM_017890.4:c.11327del , LRG_351t1:c.11327del	NP_060360.3:p.Asn3776ThrfsTer?
NM_152564.4:c.11252del , LRG_351t2:c.11252del	NP_689777.3:p.Asn3751ThrfsTer?
XM_005250800.2:c.11327del	XP_005250857.1:p.Asn3776ThrfsTer?
XM_005250801.3:c.11327del	XP_005250858.1:p.Asn3776ThrfsTer?
XM_011516848.1:c.11324del	XP_011515150.1:p.Asn3775ThrfsTer?
XM_011516849.1:c.11249del	XP_011515151.1:p.Asn3750ThrfsTer?
XM_011516850.1:c.10949del	XP_011515152.1:p.Asn3650ThrfsTer?
XM_011516851.1:c.8213del	XP_011515153.1:p.Asn2738ThrfsTer?
XM_011516852.1:c.8213del	XP_011515154.1:p.Asn2738ThrfsTer?
XM_011516854.1:c.7106del	XP_011515156.1:p.Asn2369ThrfsTer?
XM_005250800.3:c.11327del	XP_005250857.1:p.Asn3776ThrfsTer?
XM_005250801.5:c.11327del	XP_005250858.1:p.Asn3776ThrfsTer?
XM_011516848.2:c.11324del	XP_011515150.1:p.Asn3775ThrfsTer?
XM_011516849.2:c.11249del	XP_011515151.1:p.Asn3750ThrfsTer?
XM_011516850.2:c.10949del	XP_011515152.1:p.Asn3650ThrfsTer?
XM_011516851.2:c.8213del	XP_011515153.1:p.Asn2738ThrfsTer?
XM_011516852.2:c.8213del	XP_011515154.1:p.Asn2738ThrfsTer?
XM_011516854.2:c.7106del	XP_011515156.1:p.Asn2369ThrfsTer?
XM_017013109.1:c.11132del	XP_016868598.1:p.Asn3711ThrfsTer?
XM_017013111.1:c.8213del	XP_016868600.1:p.Asn2738ThrfsTer?
XM_017013112.1:c.6884del	XP_016868601.1:p.Asn2295ThrfsTer?
XM_024447074.1:c.10112del	XP_024302842.1:p.Asn3371ThrfsTer?
NM_017890.5:c.11327del MANE Plus Clinical	NP_060360.3:p.Asn3776ThrfsTer?
NM_152564.5:c.11252del MANE Select	NP_689777.3:p.Asn3751ThrfsTer?