Canonical Allele Identifier: CA2688057072

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99013381-G-GCGGGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99013382_99013387dup , CM000670.2:g.99013382_99013387dup	GRCh38
NC_000008.10:g.100025610_100025615dup , CM000670.1:g.100025610_100025615dup	GRCh37
NC_000008.9:g.100094786_100094791dup	NCBI36
NG_007098.2:g.5117_5122dup , LRG_351:g.5117_5122dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355155.6:c.-30+35_-30+40dup	ENSP00000347281.2:n.-30+35_-30+40dup
ENST00000682145.1:n.40+35_40+40dup
ENST00000682153.1:c.-30+35_-30+40dup	ENSP00000507923.1:n.-30+35_-30+40dup
ENST00000682234.1:c.-30+35_-30+40dup	ENSP00000508225.1:n.-30+35_-30+40dup
ENST00000682358.1:n.41+35_41+40dup
ENST00000682806.1:n.72+35_72+40dup
ENST00000682853.1:n.76+35_76+40dup
ENST00000683334.1:c.-30+35_-30+40dup	ENSP00000507369.1:n.-30+35_-30+40dup
ENST00000683486.1:n.37+35_37+40dup
ENST00000683619.1:n.74+35_74+40dup
ENST00000683869.1:n.52+35_52+40dup
ENST00000684269.1:n.72+35_72+40dup
ENST00000684308.1:n.37+35_37+40dup
ENST00000357162.7:c.-30+35_-30+40dup MANE Select	ENSP00000349685.2:n.-30+35_-30+40dup
ENST00000358544.7:c.-30+35_-30+40dup MANE Plus Clinical	ENSP00000351346.2:n.-30+35_-30+40dup
ENST00000355155.5:c.-30+35_-30+40dup	ENSP00000347281.1:n.-30+35_-30+40dup
ENST00000357162.6:c.-30+35_-30+40dup	ENSP00000349685.2:n.-30+35_-30+40dup
ENST00000358544.6:c.-30+35_-30+40dup	ENSP00000351346.2:n.-30+35_-30+40dup
ENST00000441350.2:c.-30+35_-30+40dup	ENSP00000398472.2:n.-30+35_-30+40dup
ENST00000496144.5:c.-30+35_-30+40dup	ENSP00000430900.1:n.-30+35_-30+40dup
NM_015243.2:c.-30+35_-30+40dup , LRG_351t3:c.-30+35_-30+40dup	NP_056058.2:n.-30+35_-30+40dup
NM_017890.4:c.-30+35_-30+40dup , LRG_351t1:c.-30+35_-30+40dup	NP_060360.3:n.-30+35_-30+40dup
NM_152564.4:c.-30+35_-30+40dup , LRG_351t2:c.-30+35_-30+40dup	NP_689777.3:n.-30+35_-30+40dup
NM_181661.2:c.-30+35_-30+40dup , LRG_351t4:c.-30+35_-30+40dup	NP_858047.2:n.-30+35_-30+40dup
NR_047582.1:n.82+35_82+40dup
XM_005250800.2:c.-317_-312dup	XP_005250857.1:n.-317_-312dup
XM_005250801.3:c.-30+111_-30+116dup	XP_005250858.1:n.-30+111_-30+116dup
XM_006716510.2:c.-30+35_-30+40dup	XP_006716573.1:n.-30+35_-30+40dup
XM_006716511.2:c.-30+35_-30+40dup	XP_006716574.1:n.-30+35_-30+40dup
XM_011516848.1:c.-30+35_-30+40dup	XP_011515150.1:n.-30+35_-30+40dup
XM_011516849.1:c.-30+35_-30+40dup	XP_011515151.1:n.-30+35_-30+40dup
XM_011516853.1:c.-30+35_-30+40dup	XP_011515155.1:n.-30+35_-30+40dup
XM_011516855.1:c.-30+35_-30+40dup	XP_011515157.1:n.-30+35_-30+40dup
XM_011516856.1:c.-30+35_-30+40dup	XP_011515158.1:n.-30+35_-30+40dup
XM_011516857.1:c.-30+35_-30+40dup	XP_011515159.1:n.-30+35_-30+40dup
XM_011516858.1:c.-30+35_-30+40dup	XP_011515160.1:n.-30+35_-30+40dup
XM_011516859.1:c.-30+35_-30+40dup	XP_011515161.1:n.-30+35_-30+40dup
XM_011516860.1:c.-30+35_-30+40dup	XP_011515162.1:n.-30+35_-30+40dup
XM_011516861.1:c.-30+35_-30+40dup	XP_011515163.1:n.-30+35_-30+40dup
XM_011516862.1:c.-30+35_-30+40dup	XP_011515164.1:n.-30+35_-30+40dup
XM_011516863.1:c.-30+35_-30+40dup	XP_011515165.1:n.-30+35_-30+40dup
XM_011516864.1:c.-30+35_-30+40dup	XP_011515166.1:n.-30+35_-30+40dup
XM_011516865.1:c.-30+35_-30+40dup	XP_011515167.1:n.-30+35_-30+40dup
XM_011516866.1:c.-30+35_-30+40dup	XP_011515168.1:n.-30+35_-30+40dup
XR_928301.1:n.74+35_74+40dup
XR_928302.1:n.74+35_74+40dup
XR_928303.1:n.74+35_74+40dup
XR_928304.1:n.74+35_74+40dup
XM_005250800.3:c.-317_-312dup	XP_005250857.1:n.-317_-312dup
XM_005250801.5:c.-30+111_-30+116dup	XP_005250858.1:n.-30+111_-30+116dup
XM_006716510.3:c.-30+35_-30+40dup	XP_006716573.1:n.-30+35_-30+40dup
XM_011516848.2:c.-30+35_-30+40dup	XP_011515150.1:n.-30+35_-30+40dup
XM_011516849.2:c.-30+35_-30+40dup	XP_011515151.1:n.-30+35_-30+40dup
XM_011516853.2:c.-30+35_-30+40dup	XP_011515155.1:n.-30+35_-30+40dup
XM_011516859.2:c.-30+35_-30+40dup	XP_011515161.1:n.-30+35_-30+40dup
XM_011516866.2:c.-30+35_-30+40dup	XP_011515168.1:n.-30+35_-30+40dup
XM_017013109.1:c.-30+35_-30+40dup	XP_016868598.1:n.-30+35_-30+40dup
XM_024447074.1:c.-1357+35_-1357+40dup	XP_024302842.1:n.-1357+35_-1357+40dup
XM_024447075.1:c.-30+35_-30+40dup	XP_024302843.1:n.-30+35_-30+40dup
XR_001745481.1:n.74+35_74+40dup
XR_001745482.2:n.74+35_74+40dup
XR_001745484.2:n.74+35_74+40dup
XR_002956601.1:n.74+35_74+40dup
XR_002956602.1:n.74+35_74+40dup
XR_928302.2:n.74+35_74+40dup
NM_015243.3:c.-30+35_-30+40dup	NP_056058.2:n.-30+35_-30+40dup
NM_017890.5:c.-30+35_-30+40dup MANE Plus Clinical	NP_060360.3:n.-30+35_-30+40dup
NM_152564.5:c.-30+35_-30+40dup MANE Select	NP_689777.3:n.-30+35_-30+40dup
NM_181661.3:c.-30+35_-30+40dup	NP_858047.2:n.-30+35_-30+40dup
NR_047582.2:n.74+35_74+40dup