Canonical Allele Identifier: CA16042625
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 373116
ClinVar RCV Id: RCV000413268
dbSNP Id: rs1057518228

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99861902_99861905dup , CM000670.2:g.99861902_99861905dup GRCh38
NC_000008.10:g.100874130_100874133dup , CM000670.1:g.100874130_100874133dup GRCh37
NC_000008.9:g.100943306_100943309dup NCBI36
NG_007098.2:g.853637_853640dup , LRG_351:g.853637_853640dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.*340_*343dup ENSP00000507923.1:n.*340_*343dup
ENST00000682358.1:n.11316_11319dup
ENST00000683334.1:c.*6928_*6931dup ENSP00000507369.1:n.*6928_*6931dup
ENST00000357162.7:c.11171_11174dup MANE Select ENSP00000349685.2:p.Leu3726GlyfsTer22
ENST00000358544.7:c.11246_11249dup MANE Plus Clinical ENSP00000351346.2:p.Leu3751GlyfsTer22
ENST00000357162.6:c.11171_11174dup ENSP00000349685.2:p.Leu3726GlyfsTer22
ENST00000358544.6:c.11246_11249dup ENSP00000351346.2:p.Leu3751GlyfsTer22
NM_017890.4:c.11246_11249dup , LRG_351t1:c.11246_11249dup NP_060360.3:p.Leu3751GlyfsTer22
NM_152564.4:c.11171_11174dup , LRG_351t2:c.11171_11174dup NP_689777.3:p.Leu3726GlyfsTer22
XM_005250800.2:c.11246_11249dup XP_005250857.1:p.Leu3751GlyfsTer22
XM_005250801.3:c.11246_11249dup XP_005250858.1:p.Leu3751GlyfsTer22
XM_011516848.1:c.11243_11246dup XP_011515150.1:p.Leu3750GlyfsTer22
XM_011516849.1:c.11168_11171dup XP_011515151.1:p.Leu3725GlyfsTer22
XM_011516850.1:c.10868_10871dup XP_011515152.1:p.Leu3625GlyfsTer22
XM_011516851.1:c.8132_8135dup XP_011515153.1:p.Leu2713GlyfsTer22
XM_011516852.1:c.8132_8135dup XP_011515154.1:p.Leu2713GlyfsTer22
XM_011516854.1:c.7025_7028dup XP_011515156.1:p.Leu2344GlyfsTer22
XM_005250800.3:c.11246_11249dup XP_005250857.1:p.Leu3751GlyfsTer22
XM_005250801.5:c.11246_11249dup XP_005250858.1:p.Leu3751GlyfsTer22
XM_011516848.2:c.11243_11246dup XP_011515150.1:p.Leu3750GlyfsTer22
XM_011516849.2:c.11168_11171dup XP_011515151.1:p.Leu3725GlyfsTer22
XM_011516850.2:c.10868_10871dup XP_011515152.1:p.Leu3625GlyfsTer22
XM_011516851.2:c.8132_8135dup XP_011515153.1:p.Leu2713GlyfsTer22
XM_011516852.2:c.8132_8135dup XP_011515154.1:p.Leu2713GlyfsTer22
XM_011516854.2:c.7025_7028dup XP_011515156.1:p.Leu2344GlyfsTer22
XM_017013109.1:c.11051_11054dup XP_016868598.1:p.Leu3686GlyfsTer22
XM_017013111.1:c.8132_8135dup XP_016868600.1:p.Leu2713GlyfsTer22
XM_017013112.1:c.6803_6806dup XP_016868601.1:p.Leu2270GlyfsTer22
XM_024447074.1:c.10031_10034dup XP_024302842.1:p.Leu3346GlyfsTer22
NM_017890.5:c.11246_11249dup MANE Plus Clinical NP_060360.3:p.Leu3751GlyfsTer22
NM_152564.5:c.11171_11174dup MANE Select NP_689777.3:p.Leu3726GlyfsTer22