Canonical Allele Identifier: CA857581703

Gene: VPS13B

Linked Data

• dbSNP Id: rs1271816562
• MyVariant Identifiers: chr8:g.100789122_100789125del (hg19) ; chr8:g.99776894_99776897del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776898_99776901del , CM000670.2:g.99776898_99776901del	GRCh38
NC_000008.10:g.100789126_100789129del , CM000670.1:g.100789126_100789129del	GRCh37
NC_000008.9:g.100858302_100858305del	NCBI36
NG_007098.2:g.768633_768636del , LRG_351:g.768633_768636del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7446_7449del	ENSP00000507923.1:p.Phe2483SerfsTer16
ENST00000682358.1:n.7516_7519del
ENST00000683334.1:c.*3128_*3131del	ENSP00000507369.1:n.*3128_*3131del
ENST00000357162.7:c.7371_7374del MANE Select	ENSP00000349685.2:p.Phe2458SerfsTer16
ENST00000358544.7:c.7446_7449del MANE Plus Clinical	ENSP00000351346.2:p.Phe2483SerfsTer16
ENST00000357162.6:c.7371_7374del	ENSP00000349685.2:p.Phe2458SerfsTer16
ENST00000358544.6:c.7446_7449del	ENSP00000351346.2:p.Phe2483SerfsTer16
ENST00000518569.1:n.378-1784_378-1781del
NM_017890.4:c.7446_7449del , LRG_351t1:c.7446_7449del	NP_060360.3:p.Phe2483SerfsTer16
NM_152564.4:c.7371_7374del , LRG_351t2:c.7371_7374del	NP_689777.3:p.Phe2458SerfsTer16
XM_005250800.2:c.7446_7449del	XP_005250857.1:p.Phe2483SerfsTer16
XM_005250801.3:c.7446_7449del	XP_005250858.1:p.Phe2483SerfsTer16
XM_011516848.1:c.7443_7446del	XP_011515150.1:p.Phe2482SerfsTer16
XM_011516849.1:c.7368_7371del	XP_011515151.1:p.Phe2457SerfsTer16
XM_011516850.1:c.7068_7071del	XP_011515152.1:p.Phe2357SerfsTer16
XM_011516851.1:c.4332_4335del	XP_011515153.1:p.Phe1445SerfsTer16
XM_011516852.1:c.4332_4335del	XP_011515154.1:p.Phe1445SerfsTer16
XM_011516853.1:c.7446_7449del	XP_011515155.1:p.Phe2483SerfsTer16
XM_011516854.1:c.3225_3228del	XP_011515156.1:p.Phe1076SerfsTer16
XR_928446.1:n.1830+5581_1830+5584del
XM_005250800.3:c.7446_7449del	XP_005250857.1:p.Phe2483SerfsTer16
XM_005250801.5:c.7446_7449del	XP_005250858.1:p.Phe2483SerfsTer16
XM_011516848.2:c.7443_7446del	XP_011515150.1:p.Phe2482SerfsTer16
XM_011516849.2:c.7368_7371del	XP_011515151.1:p.Phe2457SerfsTer16
XM_011516850.2:c.7068_7071del	XP_011515152.1:p.Phe2357SerfsTer16
XM_011516851.2:c.4332_4335del	XP_011515153.1:p.Phe1445SerfsTer16
XM_011516852.2:c.4332_4335del	XP_011515154.1:p.Phe1445SerfsTer16
XM_011516853.2:c.7446_7449del	XP_011515155.1:p.Phe2483SerfsTer16
XM_011516854.2:c.3225_3228del	XP_011515156.1:p.Phe1076SerfsTer16
XM_017013109.1:c.7251_7254del	XP_016868598.1:p.Phe2418SerfsTer16
XM_017013111.1:c.4332_4335del	XP_016868600.1:p.Phe1445SerfsTer16
XM_017013112.1:c.3003_3006del	XP_016868601.1:p.Phe1002SerfsTer16
XM_024447074.1:c.6231_6234del	XP_024302842.1:p.Phe2078SerfsTer16
NM_017890.5:c.7446_7449del MANE Plus Clinical	NP_060360.3:p.Phe2483SerfsTer16
NM_152564.5:c.7371_7374del MANE Select	NP_689777.3:p.Phe2458SerfsTer16