Canonical Allele Identifier: CA264014

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 56637
• ClinVar RCV Id: RCV000050050
• dbSNP Id: rs386834063
• MyVariant Identifiers: chr8:g.100883101dupT (hg19) ; chr8:g.99870873dupT (hg38)
• PubMed: PMID:20461111

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99870873dup , CM000670.2:g.99870873dup	GRCh38
NC_000008.10:g.100883101dup , CM000670.1:g.100883101dup	GRCh37
NC_000008.9:g.100952277dup	NCBI36
NG_007098.2:g.862608dup , LRG_351:g.862608dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*650dup	ENSP00000507923.1:n.*650dup
ENST00000682358.1:n.11626dup
ENST00000683334.1:c.*7238dup	ENSP00000507369.1:n.*7238dup
ENST00000357162.7:c.11481dup MANE Select	ENSP00000349685.2:p.Val3828CysfsTer?
ENST00000358544.7:c.11556dup MANE Plus Clinical	ENSP00000351346.2:p.Val3853CysfsTer?
ENST00000357162.6:c.11481dup	ENSP00000349685.2:p.Val3828CysfsTer?
ENST00000358544.6:c.11556dup	ENSP00000351346.2:p.Val3853CysfsTer?
ENST00000493587.1:n.498dup
NM_017890.4:c.11556dup , LRG_351t1:c.11556dup	NP_060360.3:p.Val3853CysfsTer?
NM_152564.4:c.11481dup , LRG_351t2:c.11481dup	NP_689777.3:p.Val3828CysfsTer?
XM_005250800.2:c.11556dup	XP_005250857.1:p.Val3853CysfsTer?
XM_005250801.3:c.11556dup	XP_005250858.1:p.Val3853CysfsTer?
XM_011516848.1:c.11553dup	XP_011515150.1:p.Val3852CysfsTer?
XM_011516849.1:c.11478dup	XP_011515151.1:p.Val3827CysfsTer?
XM_011516850.1:c.11178dup	XP_011515152.1:p.Val3727CysfsTer?
XM_011516851.1:c.8442dup	XP_011515153.1:p.Val2815CysfsTer?
XM_011516852.1:c.8442dup	XP_011515154.1:p.Val2815CysfsTer?
XM_011516854.1:c.7335dup	XP_011515156.1:p.Val2446CysfsTer?
XM_005250800.3:c.11556dup	XP_005250857.1:p.Val3853CysfsTer?
XM_005250801.5:c.11556dup	XP_005250858.1:p.Val3853CysfsTer?
XM_011516848.2:c.11553dup	XP_011515150.1:p.Val3852CysfsTer?
XM_011516849.2:c.11478dup	XP_011515151.1:p.Val3827CysfsTer?
XM_011516850.2:c.11178dup	XP_011515152.1:p.Val3727CysfsTer?
XM_011516851.2:c.8442dup	XP_011515153.1:p.Val2815CysfsTer?
XM_011516852.2:c.8442dup	XP_011515154.1:p.Val2815CysfsTer?
XM_011516854.2:c.7335dup	XP_011515156.1:p.Val2446CysfsTer?
XM_017013109.1:c.11361dup	XP_016868598.1:p.Val3788CysfsTer?
XM_017013111.1:c.8442dup	XP_016868600.1:p.Val2815CysfsTer?
XM_017013112.1:c.7113dup	XP_016868601.1:p.Val2372CysfsTer?
XM_024447074.1:c.10341dup	XP_024302842.1:p.Val3448CysfsTer?
NM_017890.5:c.11556dup MANE Plus Clinical	NP_060360.3:p.Val3853CysfsTer?
NM_152564.5:c.11481dup MANE Select	NP_689777.3:p.Val3828CysfsTer?