Canonical Allele Identifier: CA264017

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99871572_99871575del , CM000670.2:g.99871572_99871575del	GRCh38
NC_000008.10:g.100883800_100883803del , CM000670.1:g.100883800_100883803del	GRCh37
NC_000008.9:g.100952976_100952979del	NCBI36
NG_007098.2:g.863307_863310del , LRG_351:g.863307_863310del

Transcript Alleles

HGVS	Amino-acid Change
NM_152564.5:c.11620_11623del MANE Select	NP_689777.3:p.Ser3876ArgfsTer?
ENST00000357162.7:c.11620_11623del MANE Select	ENSP00000349685.2:p.Ser3876ArgfsTer?
NM_017890.5:c.11695_11698del MANE Plus Clinical	NP_060360.3:p.Ser3901ArgfsTer?
ENST00000358544.7:c.11695_11698del MANE Plus Clinical	ENSP00000351346.2:p.Ser3901ArgfsTer?
NM_017890.4:c.11695_11698del , LRG_351t1:c.11695_11698del	NP_060360.3:p.Ser3901ArgfsTer?
NM_152564.4:c.11620_11623del , LRG_351t2:c.11620_11623del	NP_689777.3:p.Ser3876ArgfsTer?
ENST00000357162.6:c.11620_11623del	ENSP00000349685.2:p.Ser3876ArgfsTer?
ENST00000358544.6:c.11695_11698del	ENSP00000351346.2:p.Ser3901ArgfsTer?
ENST00000493587.1:n.1197_1200del
ENST00000682153.1:c.*1349_*1352del	ENSP00000507923.1:n.*1349_*1352del
ENST00000682358.1:n.12325_12328del
ENST00000683334.1:c.*7377_*7380del	ENSP00000507369.1:n.*7377_*7380del
XM_005250800.2:c.11695_11698del	XP_005250857.1:p.Ser3901ArgfsTer?
XM_005250800.3:c.11695_11698del	XP_005250857.1:p.Ser3901ArgfsTer?
XM_005250801.3:c.11695_11698del	XP_005250858.1:p.Ser3901ArgfsTer?
XM_005250801.5:c.11695_11698del	XP_005250858.1:p.Ser3901ArgfsTer?
XM_011516848.1:c.11692_11695del	XP_011515150.1:p.Ser3900ArgfsTer?
XM_011516848.2:c.11692_11695del	XP_011515150.1:p.Ser3900ArgfsTer?
XM_011516849.1:c.11617_11620del	XP_011515151.1:p.Ser3875ArgfsTer?
XM_011516849.2:c.11617_11620del	XP_011515151.1:p.Ser3875ArgfsTer?
XM_011516850.1:c.11317_11320del	XP_011515152.1:p.Ser3775ArgfsTer?
XM_011516850.2:c.11317_11320del	XP_011515152.1:p.Ser3775ArgfsTer?
XM_011516851.1:c.8581_8584del	XP_011515153.1:p.Ser2863ArgfsTer?
XM_011516851.2:c.8581_8584del	XP_011515153.1:p.Ser2863ArgfsTer?
XM_011516852.1:c.8581_8584del	XP_011515154.1:p.Ser2863ArgfsTer?
XM_011516852.2:c.8581_8584del	XP_011515154.1:p.Ser2863ArgfsTer?
XM_011516854.1:c.7474_7477del	XP_011515156.1:p.Ser2494ArgfsTer?
XM_011516854.2:c.7474_7477del	XP_011515156.1:p.Ser2494ArgfsTer?
XM_017013109.1:c.11500_11503del	XP_016868598.1:p.Ser3836ArgfsTer?
XM_017013111.1:c.8581_8584del	XP_016868600.1:p.Ser2863ArgfsTer?
XM_017013112.1:c.7252_7255del	XP_016868601.1:p.Ser2420ArgfsTer?
XM_024447074.1:c.10480_10483del	XP_024302842.1:p.Ser3496ArgfsTer?