Canonical Allele Identifier: CA2781479887

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99835731_99835732del , CM000670.2:g.99835731_99835732del	GRCh38
NC_000008.10:g.100847959_100847960del , CM000670.1:g.100847959_100847960del	GRCh37
NC_000008.9:g.100917135_100917136del	NCBI36
NG_007098.2:g.827466_827467del , LRG_351:g.827466_827467del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.10010_10011del	ENSP00000507923.1:p.Gly3337AspfsTer?
ENST00000682358.1:n.10080_10081del
ENST00000683334.1:c.*5692_*5693del	ENSP00000507369.1:n.*5692_*5693del
ENST00000357162.7:c.9935_9936del MANE Select	ENSP00000349685.2:p.Gly3312AspfsTer?
ENST00000358544.7:c.10010_10011del MANE Plus Clinical	ENSP00000351346.2:p.Gly3337AspfsTer?
ENST00000357162.6:c.9935_9936del	ENSP00000349685.2:p.Gly3312AspfsTer?
ENST00000358544.6:c.10010_10011del	ENSP00000351346.2:p.Gly3337AspfsTer?
NM_017890.4:c.10010_10011del , LRG_351t1:c.10010_10011del	NP_060360.3:p.Gly3337AspfsTer?
NM_152564.4:c.9935_9936del , LRG_351t2:c.9935_9936del	NP_689777.3:p.Gly3312AspfsTer?
XM_005250800.2:c.10010_10011del	XP_005250857.1:p.Gly3337AspfsTer?
XM_005250801.3:c.10010_10011del	XP_005250858.1:p.Gly3337AspfsTer?
XM_011516848.1:c.10007_10008del	XP_011515150.1:p.Gly3336AspfsTer?
XM_011516849.1:c.9932_9933del	XP_011515151.1:p.Gly3311AspfsTer?
XM_011516850.1:c.9632_9633del	XP_011515152.1:p.Gly3211AspfsTer?
XM_011516851.1:c.6896_6897del	XP_011515153.1:p.Gly2299AspfsTer?
XM_011516852.1:c.6896_6897del	XP_011515154.1:p.Gly2299AspfsTer?
XM_011516854.1:c.5789_5790del	XP_011515156.1:p.Gly1930AspfsTer?
XM_005250800.3:c.10010_10011del	XP_005250857.1:p.Gly3337AspfsTer?
XM_005250801.5:c.10010_10011del	XP_005250858.1:p.Gly3337AspfsTer?
XM_011516848.2:c.10007_10008del	XP_011515150.1:p.Gly3336AspfsTer?
XM_011516849.2:c.9932_9933del	XP_011515151.1:p.Gly3311AspfsTer?
XM_011516850.2:c.9632_9633del	XP_011515152.1:p.Gly3211AspfsTer?
XM_011516851.2:c.6896_6897del	XP_011515153.1:p.Gly2299AspfsTer?
XM_011516852.2:c.6896_6897del	XP_011515154.1:p.Gly2299AspfsTer?
XM_011516854.2:c.5789_5790del	XP_011515156.1:p.Gly1930AspfsTer?
XM_017013109.1:c.9815_9816del	XP_016868598.1:p.Gly3272AspfsTer?
XM_017013111.1:c.6896_6897del	XP_016868600.1:p.Gly2299AspfsTer?
XM_017013112.1:c.5567_5568del	XP_016868601.1:p.Gly1856AspfsTer?
XM_024447074.1:c.8795_8796del	XP_024302842.1:p.Gly2932AspfsTer?
NM_017890.5:c.10010_10011del MANE Plus Clinical	NP_060360.3:p.Gly3337AspfsTer?
NM_152564.5:c.9935_9936del MANE Select	NP_689777.3:p.Gly3312AspfsTer?