Canonical Allele Identifier: CA583856606

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99871453del , CM000670.2:g.99871453del	GRCh38
NC_000008.10:g.100883681del , CM000670.1:g.100883681del	GRCh37
NC_000008.9:g.100952857del	NCBI36
NG_007098.2:g.863188del , LRG_351:g.863188del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1230del	ENSP00000507923.1:n.*1230del
ENST00000682358.1:n.12206del
ENST00000683334.1:c.*7258del	ENSP00000507369.1:n.*7258del
ENST00000357162.7:c.11501del MANE Select	ENSP00000349685.2:p.Met3834SerfsTer19
ENST00000358544.7:c.11576del MANE Plus Clinical	ENSP00000351346.2:p.Met3859SerfsTer19
ENST00000357162.6:c.11501del	ENSP00000349685.2:p.Met3834SerfsTer19
ENST00000358544.6:c.11576del	ENSP00000351346.2:p.Met3859SerfsTer19
ENST00000493587.1:n.1078del
NM_017890.4:c.11576del , LRG_351t1:c.11576del	NP_060360.3:p.Met3859SerfsTer19
NM_152564.4:c.11501del , LRG_351t2:c.11501del	NP_689777.3:p.Met3834SerfsTer19
XM_005250800.2:c.11576del	XP_005250857.1:p.Met3859SerfsTer19
XM_005250801.3:c.11576del	XP_005250858.1:p.Met3859SerfsTer19
XM_011516848.1:c.11573del	XP_011515150.1:p.Met3858SerfsTer19
XM_011516849.1:c.11498del	XP_011515151.1:p.Met3833SerfsTer19
XM_011516850.1:c.11198del	XP_011515152.1:p.Met3733SerfsTer19
XM_011516851.1:c.8462del	XP_011515153.1:p.Met2821SerfsTer19
XM_011516852.1:c.8462del	XP_011515154.1:p.Met2821SerfsTer19
XM_011516854.1:c.7355del	XP_011515156.1:p.Met2452SerfsTer19
XM_005250800.3:c.11576del	XP_005250857.1:p.Met3859SerfsTer19
XM_005250801.5:c.11576del	XP_005250858.1:p.Met3859SerfsTer19
XM_011516848.2:c.11573del	XP_011515150.1:p.Met3858SerfsTer19
XM_011516849.2:c.11498del	XP_011515151.1:p.Met3833SerfsTer19
XM_011516850.2:c.11198del	XP_011515152.1:p.Met3733SerfsTer19
XM_011516851.2:c.8462del	XP_011515153.1:p.Met2821SerfsTer19
XM_011516852.2:c.8462del	XP_011515154.1:p.Met2821SerfsTer19
XM_011516854.2:c.7355del	XP_011515156.1:p.Met2452SerfsTer19
XM_017013109.1:c.11381del	XP_016868598.1:p.Met3794SerfsTer19
XM_017013111.1:c.8462del	XP_016868600.1:p.Met2821SerfsTer19
XM_017013112.1:c.7133del	XP_016868601.1:p.Met2378SerfsTer19
XM_024447074.1:c.10361del	XP_024302842.1:p.Met3454SerfsTer19
NM_017890.5:c.11576del MANE Plus Clinical	NP_060360.3:p.Met3859SerfsTer19
NM_152564.5:c.11501del MANE Select	NP_689777.3:p.Met3834SerfsTer19