Canonical Allele Identifier: CA3052824282

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99556451_99556461del , CM000670.2:g.99556451_99556461del	GRCh38
NC_000008.10:g.100568679_100568689del , CM000670.1:g.100568679_100568689del	GRCh37
NC_000008.9:g.100637855_100637865del	NCBI36
NG_007098.2:g.548186_548196del , LRG_351:g.548186_548196del

Transcript Alleles

HGVS	Amino-acid Change
NM_152564.5:c.4747_4757del MANE Select	NP_689777.3:p.Arg1583LeufsTer?
ENST00000357162.7:c.4747_4757del MANE Select	ENSP00000349685.2:p.Arg1583LeufsTer?
NM_017890.5:c.4822_4832del MANE Plus Clinical	NP_060360.3:p.Arg1608LeufsTer?
ENST00000358544.7:c.4822_4832del MANE Plus Clinical	ENSP00000351346.2:p.Arg1608LeufsTer?
NM_017890.4:c.4822_4832del , LRG_351t1:c.4822_4832del	NP_060360.3:p.Arg1608LeufsTer?
NM_152564.4:c.4747_4757del , LRG_351t2:c.4747_4757del	NP_689777.3:p.Arg1583LeufsTer?
ENST00000357162.6:c.4747_4757del	ENSP00000349685.2:p.Arg1583LeufsTer?
ENST00000358544.6:c.4822_4832del	ENSP00000351346.2:p.Arg1608LeufsTer?
ENST00000496144.5:c.*605_*615del	ENSP00000430900.1:n.*605_*615del
ENST00000521559.1:c.113-19207_113-19197del
ENST00000682153.1:c.4822_4832del	ENSP00000507923.1:p.Arg1608LeufsTer?
ENST00000682358.1:n.4892_4902del
ENST00000683334.1:c.*504_*514del	ENSP00000507369.1:n.*504_*514del
XM_005250800.2:c.4822_4832del	XP_005250857.1:p.Arg1608LeufsTer?
XM_005250800.3:c.4822_4832del	XP_005250857.1:p.Arg1608LeufsTer?
XM_005250801.3:c.4822_4832del	XP_005250858.1:p.Arg1608LeufsTer?
XM_005250801.5:c.4822_4832del	XP_005250858.1:p.Arg1608LeufsTer?
XM_006716510.2:c.4822_4832del	XP_006716573.1:p.Arg1608LeufsTer?
XM_006716510.3:c.4822_4832del	XP_006716573.1:p.Arg1608LeufsTer?
XM_011516848.1:c.4819_4829del	XP_011515150.1:p.Arg1607LeufsTer?
XM_011516848.2:c.4819_4829del	XP_011515150.1:p.Arg1607LeufsTer?
XM_011516849.1:c.4744_4754del	XP_011515151.1:p.Arg1582LeufsTer?
XM_011516849.2:c.4744_4754del	XP_011515151.1:p.Arg1582LeufsTer?
XM_011516850.1:c.4444_4454del	XP_011515152.1:p.Arg1482LeufsTer?
XM_011516850.2:c.4444_4454del	XP_011515152.1:p.Arg1482LeufsTer?
XM_011516851.1:c.1708_1718del	XP_011515153.1:p.Arg570LeufsTer?
XM_011516851.2:c.1708_1718del	XP_011515153.1:p.Arg570LeufsTer?
XM_011516852.1:c.1708_1718del	XP_011515154.1:p.Arg570LeufsTer?
XM_011516852.2:c.1708_1718del	XP_011515154.1:p.Arg570LeufsTer?
XM_011516853.1:c.4822_4832del	XP_011515155.1:p.Arg1608LeufsTer?
XM_011516853.2:c.4822_4832del	XP_011515155.1:p.Arg1608LeufsTer?
XM_011516854.1:c.601_611del	XP_011515156.1:p.Arg201LeufsTer?
XM_011516854.2:c.601_611del	XP_011515156.1:p.Arg201LeufsTer?
XM_017013109.1:c.4627_4637del	XP_016868598.1:p.Arg1543LeufsTer?
XM_017013111.1:c.1708_1718del	XP_016868600.1:p.Arg570LeufsTer?
XM_017013112.1:c.379_389del	XP_016868601.1:p.Arg127LeufsTer?
XM_024447074.1:c.3607_3617del	XP_024302842.1:p.Arg1203LeufsTer?
XR_001745482.2:n.4783_4793del
XR_928301.1:n.4925_4935del
XR_928302.1:n.4925_4935del
XR_928302.2:n.4925_4935del
XR_928303.1:n.4925_4935del
XR_928304.1:n.4992_5002del