Canonical Allele Identifier: CA16041282
Gene: VPS13B HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371511
ClinVar RCV Id: RCV000410555
dbSNP Id: rs1057517328

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99875552dup , CM000670.2:g.99875552dup GRCh38
NC_000008.10:g.100887780dup , CM000670.1:g.100887780dup GRCh37
NC_000008.9:g.100956956dup NCBI36
NG_007098.2:g.867287dup , LRG_351:g.867287dup

Transcript Alleles

HGVS Amino-acid change
NM_017890.4:c.11955dup , LRG_351t1:c.11955dup NP_060360.3:p.Pro3986SerfsTer6
NM_152564.4:c.11880dup , LRG_351t2:c.11880dup NP_689777.3:p.Pro3961SerfsTer6
XM_005250800.2:c.11955dup XP_005250857.1:p.Pro3986SerfsTer6
XM_005250801.3:c.11955dup XP_005250858.1:p.Pro3986SerfsTer6
XM_011516848.1:c.11952dup XP_011515150.1:p.Pro3985SerfsTer6
XM_011516849.1:c.11877dup XP_011515151.1:p.Pro3960SerfsTer6
XM_011516850.1:c.11577dup XP_011515152.1:p.Pro3860SerfsTer6
XM_011516851.1:c.8841dup XP_011515153.1:p.Pro2948SerfsTer6
XM_011516852.1:c.8841dup XP_011515154.1:p.Pro2948SerfsTer6
XM_011516854.1:c.7734dup XP_011515156.1:p.Pro2579SerfsTer6
XM_005250800.3:c.11955dup XP_005250857.1:p.Pro3986SerfsTer6
XM_005250801.5:c.11955dup XP_005250858.1:p.Pro3986SerfsTer6
XM_011516848.2:c.11952dup XP_011515150.1:p.Pro3985SerfsTer6
XM_011516849.2:c.11877dup XP_011515151.1:p.Pro3960SerfsTer6
XM_011516850.2:c.11577dup XP_011515152.1:p.Pro3860SerfsTer6
XM_011516851.2:c.8841dup XP_011515153.1:p.Pro2948SerfsTer6
XM_011516852.2:c.8841dup XP_011515154.1:p.Pro2948SerfsTer6
XM_011516854.2:c.7734dup XP_011515156.1:p.Pro2579SerfsTer6
XM_017013109.1:c.11760dup XP_016868598.1:p.Pro3921SerfsTer6
XM_017013111.1:c.8841dup XP_016868600.1:p.Pro2948SerfsTer6
XM_017013112.1:c.7512dup XP_016868601.1:p.Pro2505SerfsTer6
XM_024447074.1:c.10740dup XP_024302842.1:p.Pro3581SerfsTer6
ENST00000357162.6:c.11880dup ENSP00000349685.2:p.Pro3961SerfsTer6
ENST00000358544.6:c.11955dup ENSP00000351346.2:p.Pro3986SerfsTer6
ENST00000493587.1:n.1457dup
ENST00000520517.5:c.*142-460dup ENSP00000429991.1:p.=
ENST00000522934.5:c.*142-2259dup ENSP00000428702.1:p.=