Canonical Allele Identifier: CA658821174

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 557675
• ClinVar RCV Id: RCV000673846
• dbSNP Id: rs1554952467
• gnomAD v4: 8-99776839-G-GC
• MyVariant Identifiers: chr8:g.99776841dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776841dup , CM000670.2:g.99776841dup	GRCh38
NC_000008.10:g.100789069dup , CM000670.1:g.100789069dup	GRCh37
NC_000008.9:g.100858245dup	NCBI36
NG_007098.2:g.768576dup , LRG_351:g.768576dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7389dup	ENSP00000507923.1:p.Cys2464LeufsTer5
ENST00000682358.1:n.7459dup
ENST00000683334.1:c.*3071dup	ENSP00000507369.1:n.*3071dup
ENST00000357162.7:c.7314dup MANE Select	ENSP00000349685.2:p.Cys2439LeufsTer5
ENST00000358544.7:c.7389dup MANE Plus Clinical	ENSP00000351346.2:p.Cys2464LeufsTer5
ENST00000357162.6:c.7314dup	ENSP00000349685.2:p.Cys2439LeufsTer5
ENST00000358544.6:c.7389dup	ENSP00000351346.2:p.Cys2464LeufsTer5
ENST00000518569.1:n.378-1841dup
NM_017890.4:c.7389dup , LRG_351t1:c.7389dup	NP_060360.3:p.Cys2464LeufsTer5
NM_152564.4:c.7314dup , LRG_351t2:c.7314dup	NP_689777.3:p.Cys2439LeufsTer5
XM_005250800.2:c.7389dup	XP_005250857.1:p.Cys2464LeufsTer5
XM_005250801.3:c.7389dup	XP_005250858.1:p.Cys2464LeufsTer5
XM_011516848.1:c.7386dup	XP_011515150.1:p.Cys2463LeufsTer5
XM_011516849.1:c.7311dup	XP_011515151.1:p.Cys2438LeufsTer5
XM_011516850.1:c.7011dup	XP_011515152.1:p.Cys2338LeufsTer5
XM_011516851.1:c.4275dup	XP_011515153.1:p.Cys1426LeufsTer5
XM_011516852.1:c.4275dup	XP_011515154.1:p.Cys1426LeufsTer5
XM_011516853.1:c.7389dup	XP_011515155.1:p.Cys2464LeufsTer5
XM_011516854.1:c.3168dup	XP_011515156.1:p.Cys1057LeufsTer5
XR_928446.1:n.1830+5638dup
XM_005250800.3:c.7389dup	XP_005250857.1:p.Cys2464LeufsTer5
XM_005250801.5:c.7389dup	XP_005250858.1:p.Cys2464LeufsTer5
XM_011516848.2:c.7386dup	XP_011515150.1:p.Cys2463LeufsTer5
XM_011516849.2:c.7311dup	XP_011515151.1:p.Cys2438LeufsTer5
XM_011516850.2:c.7011dup	XP_011515152.1:p.Cys2338LeufsTer5
XM_011516851.2:c.4275dup	XP_011515153.1:p.Cys1426LeufsTer5
XM_011516852.2:c.4275dup	XP_011515154.1:p.Cys1426LeufsTer5
XM_011516853.2:c.7389dup	XP_011515155.1:p.Cys2464LeufsTer5
XM_011516854.2:c.3168dup	XP_011515156.1:p.Cys1057LeufsTer5
XM_017013109.1:c.7194dup	XP_016868598.1:p.Cys2399LeufsTer5
XM_017013111.1:c.4275dup	XP_016868600.1:p.Cys1426LeufsTer5
XM_017013112.1:c.2946dup	XP_016868601.1:p.Cys983LeufsTer5
XM_024447074.1:c.6174dup	XP_024302842.1:p.Cys2059LeufsTer5
NM_017890.5:c.7389dup MANE Plus Clinical	NP_060360.3:p.Cys2464LeufsTer5
NM_152564.5:c.7314dup MANE Select	NP_689777.3:p.Cys2439LeufsTer5