Canonical Allele Identifier: CA2688074107

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99871572_99871575dup , CM000670.2:g.99871572_99871575dup	GRCh38
NC_000008.10:g.100883800_100883803dup , CM000670.1:g.100883800_100883803dup	GRCh37
NC_000008.9:g.100952976_100952979dup	NCBI36
NG_007098.2:g.863307_863310dup , LRG_351:g.863307_863310dup

Transcript Alleles

HGVS	Amino-acid Change
NM_152564.5:c.11620_11623dup MANE Select	NP_689777.3:p.Val3875GlufsTer4
ENST00000357162.7:c.11620_11623dup MANE Select	ENSP00000349685.2:p.Val3875GlufsTer4
NM_017890.5:c.11695_11698dup MANE Plus Clinical	NP_060360.3:p.Val3900GlufsTer4
ENST00000358544.7:c.11695_11698dup MANE Plus Clinical	ENSP00000351346.2:p.Val3900GlufsTer4
NM_017890.4:c.11695_11698dup , LRG_351t1:c.11695_11698dup	NP_060360.3:p.Val3900GlufsTer4
NM_152564.4:c.11620_11623dup , LRG_351t2:c.11620_11623dup	NP_689777.3:p.Val3875GlufsTer4
ENST00000357162.6:c.11620_11623dup	ENSP00000349685.2:p.Val3875GlufsTer4
ENST00000358544.6:c.11695_11698dup	ENSP00000351346.2:p.Val3900GlufsTer4
ENST00000493587.1:n.1197_1200dup
ENST00000682153.1:c.*1349_*1352dup	ENSP00000507923.1:n.*1349_*1352dup
ENST00000682358.1:n.12325_12328dup
ENST00000683334.1:c.*7377_*7380dup	ENSP00000507369.1:n.*7377_*7380dup
XM_005250800.2:c.11695_11698dup	XP_005250857.1:p.Val3900GlufsTer4
XM_005250800.3:c.11695_11698dup	XP_005250857.1:p.Val3900GlufsTer4
XM_005250801.3:c.11695_11698dup	XP_005250858.1:p.Val3900GlufsTer4
XM_005250801.5:c.11695_11698dup	XP_005250858.1:p.Val3900GlufsTer4
XM_011516848.1:c.11692_11695dup	XP_011515150.1:p.Val3899GlufsTer4
XM_011516848.2:c.11692_11695dup	XP_011515150.1:p.Val3899GlufsTer4
XM_011516849.1:c.11617_11620dup	XP_011515151.1:p.Val3874GlufsTer4
XM_011516849.2:c.11617_11620dup	XP_011515151.1:p.Val3874GlufsTer4
XM_011516850.1:c.11317_11320dup	XP_011515152.1:p.Val3774GlufsTer4
XM_011516850.2:c.11317_11320dup	XP_011515152.1:p.Val3774GlufsTer4
XM_011516851.1:c.8581_8584dup	XP_011515153.1:p.Val2862GlufsTer4
XM_011516851.2:c.8581_8584dup	XP_011515153.1:p.Val2862GlufsTer4
XM_011516852.1:c.8581_8584dup	XP_011515154.1:p.Val2862GlufsTer4
XM_011516852.2:c.8581_8584dup	XP_011515154.1:p.Val2862GlufsTer4
XM_011516854.1:c.7474_7477dup	XP_011515156.1:p.Val2493GlufsTer4
XM_011516854.2:c.7474_7477dup	XP_011515156.1:p.Val2493GlufsTer4
XM_017013109.1:c.11500_11503dup	XP_016868598.1:p.Val3835GlufsTer4
XM_017013111.1:c.8581_8584dup	XP_016868600.1:p.Val2862GlufsTer4
XM_017013112.1:c.7252_7255dup	XP_016868601.1:p.Val2419GlufsTer4
XM_024447074.1:c.10480_10483dup	XP_024302842.1:p.Val3495GlufsTer4