Canonical Allele Identifier: CA1139660680

Gene: VPS13B

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776892del , CM000670.2:g.99776892del	GRCh38
NC_000008.10:g.100789120del , CM000670.1:g.100789120del	GRCh37
NC_000008.9:g.100858296del	NCBI36
NG_007098.2:g.768627del , LRG_351:g.768627del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7440del	ENSP00000507923.1:p.Cys2480TrpfsTer20
ENST00000682358.1:n.7510del
ENST00000683334.1:c.*3122del	ENSP00000507369.1:n.*3122del
ENST00000357162.7:c.7365del MANE Select	ENSP00000349685.2:p.Cys2455TrpfsTer20
ENST00000358544.7:c.7440del MANE Plus Clinical	ENSP00000351346.2:p.Cys2480TrpfsTer20
ENST00000357162.6:c.7365del	ENSP00000349685.2:p.Cys2455TrpfsTer20
ENST00000358544.6:c.7440del	ENSP00000351346.2:p.Cys2480TrpfsTer20
ENST00000518569.1:n.378-1790del
NM_017890.4:c.7440del , LRG_351t1:c.7440del	NP_060360.3:p.Cys2480TrpfsTer20
NM_152564.4:c.7365del , LRG_351t2:c.7365del	NP_689777.3:p.Cys2455TrpfsTer20
XM_005250800.2:c.7440del	XP_005250857.1:p.Cys2480TrpfsTer20
XM_005250801.3:c.7440del	XP_005250858.1:p.Cys2480TrpfsTer20
XM_011516848.1:c.7437del	XP_011515150.1:p.Cys2479TrpfsTer20
XM_011516849.1:c.7362del	XP_011515151.1:p.Cys2454TrpfsTer20
XM_011516850.1:c.7062del	XP_011515152.1:p.Cys2354TrpfsTer20
XM_011516851.1:c.4326del	XP_011515153.1:p.Cys1442TrpfsTer20
XM_011516852.1:c.4326del	XP_011515154.1:p.Cys1442TrpfsTer20
XM_011516853.1:c.7440del	XP_011515155.1:p.Cys2480TrpfsTer20
XM_011516854.1:c.3219del	XP_011515156.1:p.Cys1073TrpfsTer20
XR_928446.1:n.1830+5586del
XM_005250800.3:c.7440del	XP_005250857.1:p.Cys2480TrpfsTer20
XM_005250801.5:c.7440del	XP_005250858.1:p.Cys2480TrpfsTer20
XM_011516848.2:c.7437del	XP_011515150.1:p.Cys2479TrpfsTer20
XM_011516849.2:c.7362del	XP_011515151.1:p.Cys2454TrpfsTer20
XM_011516850.2:c.7062del	XP_011515152.1:p.Cys2354TrpfsTer20
XM_011516851.2:c.4326del	XP_011515153.1:p.Cys1442TrpfsTer20
XM_011516852.2:c.4326del	XP_011515154.1:p.Cys1442TrpfsTer20
XM_011516853.2:c.7440del	XP_011515155.1:p.Cys2480TrpfsTer20
XM_011516854.2:c.3219del	XP_011515156.1:p.Cys1073TrpfsTer20
XM_017013109.1:c.7245del	XP_016868598.1:p.Cys2415TrpfsTer20
XM_017013111.1:c.4326del	XP_016868600.1:p.Cys1442TrpfsTer20
XM_017013112.1:c.2997del	XP_016868601.1:p.Cys999TrpfsTer20
XM_024447074.1:c.6225del	XP_024302842.1:p.Cys2075TrpfsTer20
NM_017890.5:c.7440del MANE Plus Clinical	NP_060360.3:p.Cys2480TrpfsTer20
NM_152564.5:c.7365del MANE Select	NP_689777.3:p.Cys2455TrpfsTer20