Canonical Allele Identifier: CA2497230830

Gene: VPS13B

Linked Data

• dbSNP Id: rs1811767045

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776903_99776909del , CM000670.2:g.99776903_99776909del	GRCh38
NC_000008.10:g.100789131_100789137del , CM000670.1:g.100789131_100789137del	GRCh37
NC_000008.9:g.100858307_100858313del	NCBI36
NG_007098.2:g.768638_768644del , LRG_351:g.768638_768644del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7451_7457del	ENSP00000507923.1:p.Gln2484LeufsTer14
ENST00000682358.1:n.7521_7527del
ENST00000683334.1:c.*3133_*3139del	ENSP00000507369.1:n.*3133_*3139del
ENST00000357162.7:c.7376_7382del MANE Select	ENSP00000349685.2:p.Gln2459LeufsTer14
ENST00000358544.7:c.7451_7457del MANE Plus Clinical	ENSP00000351346.2:p.Gln2484LeufsTer14
ENST00000357162.6:c.7376_7382del	ENSP00000349685.2:p.Gln2459LeufsTer14
ENST00000358544.6:c.7451_7457del	ENSP00000351346.2:p.Gln2484LeufsTer14
ENST00000518569.1:n.378-1779_378-1773del
NM_017890.4:c.7451_7457del , LRG_351t1:c.7451_7457del	NP_060360.3:p.Gln2484LeufsTer14
NM_152564.4:c.7376_7382del , LRG_351t2:c.7376_7382del	NP_689777.3:p.Gln2459LeufsTer14
XM_005250800.2:c.7451_7457del	XP_005250857.1:p.Gln2484LeufsTer14
XM_005250801.3:c.7451_7457del	XP_005250858.1:p.Gln2484LeufsTer14
XM_011516848.1:c.7448_7454del	XP_011515150.1:p.Gln2483LeufsTer14
XM_011516849.1:c.7373_7379del	XP_011515151.1:p.Gln2458LeufsTer14
XM_011516850.1:c.7073_7079del	XP_011515152.1:p.Gln2358LeufsTer14
XM_011516851.1:c.4337_4343del	XP_011515153.1:p.Gln1446LeufsTer14
XM_011516852.1:c.4337_4343del	XP_011515154.1:p.Gln1446LeufsTer14
XM_011516853.1:c.7451_7457del	XP_011515155.1:p.Gln2484LeufsTer14
XM_011516854.1:c.3230_3236del	XP_011515156.1:p.Gln1077LeufsTer14
XR_928446.1:n.1830+5570_1830+5576del
XM_005250800.3:c.7451_7457del	XP_005250857.1:p.Gln2484LeufsTer14
XM_005250801.5:c.7451_7457del	XP_005250858.1:p.Gln2484LeufsTer14
XM_011516848.2:c.7448_7454del	XP_011515150.1:p.Gln2483LeufsTer14
XM_011516849.2:c.7373_7379del	XP_011515151.1:p.Gln2458LeufsTer14
XM_011516850.2:c.7073_7079del	XP_011515152.1:p.Gln2358LeufsTer14
XM_011516851.2:c.4337_4343del	XP_011515153.1:p.Gln1446LeufsTer14
XM_011516852.2:c.4337_4343del	XP_011515154.1:p.Gln1446LeufsTer14
XM_011516853.2:c.7451_7457del	XP_011515155.1:p.Gln2484LeufsTer14
XM_011516854.2:c.3230_3236del	XP_011515156.1:p.Gln1077LeufsTer14
XM_017013109.1:c.7256_7262del	XP_016868598.1:p.Gln2419LeufsTer14
XM_017013111.1:c.4337_4343del	XP_016868600.1:p.Gln1446LeufsTer14
XM_017013112.1:c.3008_3014del	XP_016868601.1:p.Gln1003LeufsTer14
XM_024447074.1:c.6236_6242del	XP_024302842.1:p.Gln2079LeufsTer14
NM_017890.5:c.7451_7457del MANE Plus Clinical	NP_060360.3:p.Gln2484LeufsTer14
NM_152564.5:c.7376_7382del MANE Select	NP_689777.3:p.Gln2459LeufsTer14