Canonical Allele Identifier: CA264001

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 56632
• ClinVar RCV Id: RCV000050045
• dbSNP Id: rs386834058
• gnomAD v4: 8-99861778-AC-A
• MyVariant Identifiers: chr8:g.100874009del (hg19) ; chr8:g.99861781del (hg38)
• PubMed: PMID:17990063

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861781del , CM000670.2:g.99861781del	GRCh38
NC_000008.10:g.100874009del , CM000670.1:g.100874009del	GRCh37
NC_000008.9:g.100943185del	NCBI36
NG_007098.2:g.853516del , LRG_351:g.853516del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*219del	ENSP00000507923.1:n.*219del
ENST00000682358.1:n.11195del
ENST00000683334.1:c.*6807del	ENSP00000507369.1:n.*6807del
ENST00000357162.7:c.11050del MANE Select	ENSP00000349685.2:p.Leu3684SerfsTer?
ENST00000358544.7:c.11125del MANE Plus Clinical	ENSP00000351346.2:p.Leu3709SerfsTer?
ENST00000357162.6:c.11050del	ENSP00000349685.2:p.Leu3684SerfsTer?
ENST00000358544.6:c.11125del	ENSP00000351346.2:p.Leu3709SerfsTer?
NM_017890.4:c.11125del , LRG_351t1:c.11125del	NP_060360.3:p.Leu3709SerfsTer?
NM_152564.4:c.11050del , LRG_351t2:c.11050del	NP_689777.3:p.Leu3684SerfsTer?
XM_005250800.2:c.11125del	XP_005250857.1:p.Leu3709SerfsTer?
XM_005250801.3:c.11125del	XP_005250858.1:p.Leu3709SerfsTer?
XM_011516848.1:c.11122del	XP_011515150.1:p.Leu3708SerfsTer?
XM_011516849.1:c.11047del	XP_011515151.1:p.Leu3683SerfsTer?
XM_011516850.1:c.10747del	XP_011515152.1:p.Leu3583SerfsTer?
XM_011516851.1:c.8011del	XP_011515153.1:p.Leu2671SerfsTer?
XM_011516852.1:c.8011del	XP_011515154.1:p.Leu2671SerfsTer?
XM_011516854.1:c.6904del	XP_011515156.1:p.Leu2302SerfsTer?
XM_005250800.3:c.11125del	XP_005250857.1:p.Leu3709SerfsTer?
XM_005250801.5:c.11125del	XP_005250858.1:p.Leu3709SerfsTer?
XM_011516848.2:c.11122del	XP_011515150.1:p.Leu3708SerfsTer?
XM_011516849.2:c.11047del	XP_011515151.1:p.Leu3683SerfsTer?
XM_011516850.2:c.10747del	XP_011515152.1:p.Leu3583SerfsTer?
XM_011516851.2:c.8011del	XP_011515153.1:p.Leu2671SerfsTer?
XM_011516852.2:c.8011del	XP_011515154.1:p.Leu2671SerfsTer?
XM_011516854.2:c.6904del	XP_011515156.1:p.Leu2302SerfsTer?
XM_017013109.1:c.10930del	XP_016868598.1:p.Leu3644SerfsTer?
XM_017013111.1:c.8011del	XP_016868600.1:p.Leu2671SerfsTer?
XM_017013112.1:c.6682del	XP_016868601.1:p.Leu2228SerfsTer?
XM_024447074.1:c.9910del	XP_024302842.1:p.Leu3304SerfsTer?
NM_017890.5:c.11125del MANE Plus Clinical	NP_060360.3:p.Leu3709SerfsTer?
NM_152564.5:c.11050del MANE Select	NP_689777.3:p.Leu3684SerfsTer?