Canonical Allele Identifier: CA2573143502

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 1453722
• ClinVar RCV Id: RCV002037973
• dbSNP Id: rs2130941591

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861778del , CM000670.2:g.99861778del	GRCh38
NC_000008.10:g.100874006del , CM000670.1:g.100874006del	GRCh37
NC_000008.9:g.100943182del	NCBI36
NG_007098.2:g.853513del , LRG_351:g.853513del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*216del	ENSP00000507923.1:n.*216del
ENST00000682358.1:n.11192del
ENST00000683334.1:c.*6804del	ENSP00000507369.1:n.*6804del
ENST00000357162.7:c.11047del MANE Select	ENSP00000349685.2:p.Thr3683ProfsTer?
ENST00000358544.7:c.11122del MANE Plus Clinical	ENSP00000351346.2:p.Thr3708ProfsTer?
ENST00000357162.6:c.11047del	ENSP00000349685.2:p.Thr3683ProfsTer?
ENST00000358544.6:c.11122del	ENSP00000351346.2:p.Thr3708ProfsTer?
NM_017890.4:c.11122del , LRG_351t1:c.11122del	NP_060360.3:p.Thr3708ProfsTer?
NM_152564.4:c.11047del , LRG_351t2:c.11047del	NP_689777.3:p.Thr3683ProfsTer?
XM_005250800.2:c.11122del	XP_005250857.1:p.Thr3708ProfsTer?
XM_005250801.3:c.11122del	XP_005250858.1:p.Thr3708ProfsTer?
XM_011516848.1:c.11119del	XP_011515150.1:p.Thr3707ProfsTer?
XM_011516849.1:c.11044del	XP_011515151.1:p.Thr3682ProfsTer?
XM_011516850.1:c.10744del	XP_011515152.1:p.Thr3582ProfsTer?
XM_011516851.1:c.8008del	XP_011515153.1:p.Thr2670ProfsTer?
XM_011516852.1:c.8008del	XP_011515154.1:p.Thr2670ProfsTer?
XM_011516854.1:c.6901del	XP_011515156.1:p.Thr2301ProfsTer?
XM_005250800.3:c.11122del	XP_005250857.1:p.Thr3708ProfsTer?
XM_005250801.5:c.11122del	XP_005250858.1:p.Thr3708ProfsTer?
XM_011516848.2:c.11119del	XP_011515150.1:p.Thr3707ProfsTer?
XM_011516849.2:c.11044del	XP_011515151.1:p.Thr3682ProfsTer?
XM_011516850.2:c.10744del	XP_011515152.1:p.Thr3582ProfsTer?
XM_011516851.2:c.8008del	XP_011515153.1:p.Thr2670ProfsTer?
XM_011516852.2:c.8008del	XP_011515154.1:p.Thr2670ProfsTer?
XM_011516854.2:c.6901del	XP_011515156.1:p.Thr2301ProfsTer?
XM_017013109.1:c.10927del	XP_016868598.1:p.Thr3643ProfsTer?
XM_017013111.1:c.8008del	XP_016868600.1:p.Thr2670ProfsTer?
XM_017013112.1:c.6679del	XP_016868601.1:p.Thr2227ProfsTer?
XM_024447074.1:c.9907del	XP_024302842.1:p.Thr3303ProfsTer?
NM_017890.5:c.11122del MANE Plus Clinical	NP_060360.3:p.Thr3708ProfsTer?
NM_152564.5:c.11047del MANE Select	NP_689777.3:p.Thr3683ProfsTer?