Canonical Allele Identifier: CA16041279
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 371647
ClinVar RCV Id: RCV000410502
dbSNP Id: rs1057517438
MyVariant Identifiers: chr8:g.100883763dupG (hg19) chr8:g.99871535dupG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99871535dup , CM000670.2:g.99871535dup GRCh38
NC_000008.10:g.100883763dup , CM000670.1:g.100883763dup GRCh37
NC_000008.9:g.100952939dup NCBI36
NG_007098.2:g.863270dup , LRG_351:g.863270dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.*1312dup ENSP00000507923.1:n.*1312dup
ENST00000682358.1:n.12288dup
ENST00000683334.1:c.*7340dup ENSP00000507369.1:n.*7340dup
ENST00000357162.7:c.11583dup MANE Select ENSP00000349685.2:p.Cys3862ValfsTer16
ENST00000358544.7:c.11658dup MANE Plus Clinical ENSP00000351346.2:p.Cys3887ValfsTer16
ENST00000357162.6:c.11583dup ENSP00000349685.2:p.Cys3862ValfsTer16
ENST00000358544.6:c.11658dup ENSP00000351346.2:p.Cys3887ValfsTer16
ENST00000493587.1:n.1160dup
NM_017890.4:c.11658dup , LRG_351t1:c.11658dup NP_060360.3:p.Cys3887ValfsTer16
NM_152564.4:c.11583dup , LRG_351t2:c.11583dup NP_689777.3:p.Cys3862ValfsTer16
XM_005250800.2:c.11658dup XP_005250857.1:p.Cys3887ValfsTer16
XM_005250801.3:c.11658dup XP_005250858.1:p.Cys3887ValfsTer16
XM_011516848.1:c.11655dup XP_011515150.1:p.Cys3886ValfsTer16
XM_011516849.1:c.11580dup XP_011515151.1:p.Cys3861ValfsTer16
XM_011516850.1:c.11280dup XP_011515152.1:p.Cys3761ValfsTer16
XM_011516851.1:c.8544dup XP_011515153.1:p.Cys2849ValfsTer16
XM_011516852.1:c.8544dup XP_011515154.1:p.Cys2849ValfsTer16
XM_011516854.1:c.7437dup XP_011515156.1:p.Cys2480ValfsTer16
XM_005250800.3:c.11658dup XP_005250857.1:p.Cys3887ValfsTer16
XM_005250801.5:c.11658dup XP_005250858.1:p.Cys3887ValfsTer16
XM_011516848.2:c.11655dup XP_011515150.1:p.Cys3886ValfsTer16
XM_011516849.2:c.11580dup XP_011515151.1:p.Cys3861ValfsTer16
XM_011516850.2:c.11280dup XP_011515152.1:p.Cys3761ValfsTer16
XM_011516851.2:c.8544dup XP_011515153.1:p.Cys2849ValfsTer16
XM_011516852.2:c.8544dup XP_011515154.1:p.Cys2849ValfsTer16
XM_011516854.2:c.7437dup XP_011515156.1:p.Cys2480ValfsTer16
XM_017013109.1:c.11463dup XP_016868598.1:p.Cys3822ValfsTer16
XM_017013111.1:c.8544dup XP_016868600.1:p.Cys2849ValfsTer16
XM_017013112.1:c.7215dup XP_016868601.1:p.Cys2406ValfsTer16
XM_024447074.1:c.10443dup XP_024302842.1:p.Cys3482ValfsTer16
NM_017890.5:c.11658dup MANE Plus Clinical NP_060360.3:p.Cys3887ValfsTer16
NM_152564.5:c.11583dup MANE Select NP_689777.3:p.Cys3862ValfsTer16
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