Canonical Allele Identifier: CA2781456094

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99013522_99013524del , CM000670.2:g.99013522_99013524del	GRCh38
NC_000008.10:g.100025750_100025752del , CM000670.1:g.100025750_100025752del	GRCh37
NC_000008.9:g.100094926_100094928del	NCBI36
NG_007098.2:g.5257_5259del , LRG_351:g.5257_5259del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355155.6:c.-30+175_-30+177del	ENSP00000347281.2:n.-30+175_-30+177del
ENST00000682145.1:n.40+175_40+177del
ENST00000682153.1:c.-30+175_-30+177del	ENSP00000507923.1:n.-30+175_-30+177del
ENST00000682234.1:c.-30+175_-30+177del	ENSP00000508225.1:n.-30+175_-30+177del
ENST00000682358.1:n.41+175_41+177del
ENST00000682806.1:n.72+175_72+177del
ENST00000682853.1:n.76+175_76+177del
ENST00000683334.1:c.-30+175_-30+177del	ENSP00000507369.1:n.-30+175_-30+177del
ENST00000683486.1:n.37+175_37+177del
ENST00000683619.1:n.74+175_74+177del
ENST00000683869.1:n.52+175_52+177del
ENST00000684269.1:n.72+175_72+177del
ENST00000684308.1:n.37+175_37+177del
ENST00000357162.7:c.-30+175_-30+177del MANE Select	ENSP00000349685.2:n.-30+175_-30+177del
ENST00000358544.7:c.-30+175_-30+177del MANE Plus Clinical	ENSP00000351346.2:n.-30+175_-30+177del
ENST00000355155.5:c.-30+175_-30+177del	ENSP00000347281.1:n.-30+175_-30+177del
ENST00000357162.6:c.-30+175_-30+177del	ENSP00000349685.2:n.-30+175_-30+177del
ENST00000358544.6:c.-30+175_-30+177del	ENSP00000351346.2:n.-30+175_-30+177del
ENST00000441350.2:c.-30+175_-30+177del	ENSP00000398472.2:n.-30+175_-30+177del
ENST00000496144.5:c.-30+175_-30+177del	ENSP00000430900.1:n.-30+175_-30+177del
NM_015243.2:c.-30+175_-30+177del , LRG_351t3:c.-30+175_-30+177del	NP_056058.2:n.-30+175_-30+177del
NM_017890.4:c.-30+175_-30+177del , LRG_351t1:c.-30+175_-30+177del	NP_060360.3:n.-30+175_-30+177del
NM_152564.4:c.-30+175_-30+177del , LRG_351t2:c.-30+175_-30+177del	NP_689777.3:n.-30+175_-30+177del
NM_181661.2:c.-30+175_-30+177del , LRG_351t4:c.-30+175_-30+177del	NP_858047.2:n.-30+175_-30+177del
NR_047582.1:n.82+175_82+177del
XM_005250800.2:c.-177_-175del	XP_005250857.1:n.-177_-175del
XM_005250801.3:c.-29-238_-29-236del	XP_005250858.1:n.-29-238_-29-236del
XM_006716510.2:c.-30+175_-30+177del	XP_006716573.1:n.-30+175_-30+177del
XM_006716511.2:c.-30+175_-30+177del	XP_006716574.1:n.-30+175_-30+177del
XM_011516848.1:c.-30+175_-30+177del	XP_011515150.1:n.-30+175_-30+177del
XM_011516849.1:c.-30+175_-30+177del	XP_011515151.1:n.-30+175_-30+177del
XM_011516853.1:c.-30+175_-30+177del	XP_011515155.1:n.-30+175_-30+177del
XM_011516855.1:c.-30+175_-30+177del	XP_011515157.1:n.-30+175_-30+177del
XM_011516856.1:c.-30+175_-30+177del	XP_011515158.1:n.-30+175_-30+177del
XM_011516857.1:c.-30+175_-30+177del	XP_011515159.1:n.-30+175_-30+177del
XM_011516858.1:c.-30+175_-30+177del	XP_011515160.1:n.-30+175_-30+177del
XM_011516859.1:c.-30+175_-30+177del	XP_011515161.1:n.-30+175_-30+177del
XM_011516860.1:c.-30+175_-30+177del	XP_011515162.1:n.-30+175_-30+177del
XM_011516861.1:c.-30+175_-30+177del	XP_011515163.1:n.-30+175_-30+177del
XM_011516862.1:c.-30+175_-30+177del	XP_011515164.1:n.-30+175_-30+177del
XM_011516863.1:c.-30+175_-30+177del	XP_011515165.1:n.-30+175_-30+177del
XM_011516864.1:c.-30+175_-30+177del	XP_011515166.1:n.-30+175_-30+177del
XM_011516865.1:c.-30+175_-30+177del	XP_011515167.1:n.-30+175_-30+177del
XM_011516866.1:c.-30+175_-30+177del	XP_011515168.1:n.-30+175_-30+177del
XR_928301.1:n.74+175_74+177del
XR_928302.1:n.74+175_74+177del
XR_928303.1:n.74+175_74+177del
XR_928304.1:n.74+175_74+177del
XM_005250800.3:c.-177_-175del	XP_005250857.1:n.-177_-175del
XM_005250801.5:c.-29-238_-29-236del	XP_005250858.1:n.-29-238_-29-236del
XM_006716510.3:c.-30+175_-30+177del	XP_006716573.1:n.-30+175_-30+177del
XM_011516848.2:c.-30+175_-30+177del	XP_011515150.1:n.-30+175_-30+177del
XM_011516849.2:c.-30+175_-30+177del	XP_011515151.1:n.-30+175_-30+177del
XM_011516853.2:c.-30+175_-30+177del	XP_011515155.1:n.-30+175_-30+177del
XM_011516859.2:c.-30+175_-30+177del	XP_011515161.1:n.-30+175_-30+177del
XM_011516866.2:c.-30+175_-30+177del	XP_011515168.1:n.-30+175_-30+177del
XM_017013109.1:c.-30+175_-30+177del	XP_016868598.1:n.-30+175_-30+177del
XM_024447074.1:c.-1357+175_-1357+177del	XP_024302842.1:n.-1357+175_-1357+177del
XM_024447075.1:c.-30+175_-30+177del	XP_024302843.1:n.-30+175_-30+177del
XR_001745481.1:n.74+175_74+177del
XR_001745482.2:n.74+175_74+177del
XR_001745484.2:n.74+175_74+177del
XR_002956601.1:n.74+175_74+177del
XR_002956602.1:n.74+175_74+177del
XR_928302.2:n.74+175_74+177del
NM_015243.3:c.-30+175_-30+177del	NP_056058.2:n.-30+175_-30+177del
NM_017890.5:c.-30+175_-30+177del MANE Plus Clinical	NP_060360.3:n.-30+175_-30+177del
NM_152564.5:c.-30+175_-30+177del MANE Select	NP_689777.3:n.-30+175_-30+177del
NM_181661.3:c.-30+175_-30+177del	NP_858047.2:n.-30+175_-30+177del
NR_047582.2:n.74+175_74+177del