Canonical Allele Identifier: CA2781479886

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99835656_99835657insATGGG , CM000670.2:g.99835656_99835657insATGGG	GRCh38
NC_000008.10:g.100847884_100847885insATGGG , CM000670.1:g.100847884_100847885insATGGG	GRCh37
NC_000008.9:g.100917060_100917061insATGGG	NCBI36
NG_007098.2:g.827391_827392insATGGG , LRG_351:g.827391_827392insATGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.9935_9936insATGGG	ENSP00000507923.1:p.Ser3312ArgfsTer6
ENST00000682358.1:n.10005_10006insATGGG
ENST00000683334.1:c.*5617_*5618insATGGG	ENSP00000507369.1:n.*5617_*5618insATGGG
ENST00000357162.7:c.9860_9861insATGGG MANE Select	ENSP00000349685.2:p.Ser3287ArgfsTer6
ENST00000358544.7:c.9935_9936insATGGG MANE Plus Clinical	ENSP00000351346.2:p.Ser3312ArgfsTer6
ENST00000357162.6:c.9860_9861insATGGG	ENSP00000349685.2:p.Ser3287ArgfsTer6
ENST00000358544.6:c.9935_9936insATGGG	ENSP00000351346.2:p.Ser3312ArgfsTer6
NM_017890.4:c.9935_9936insATGGG , LRG_351t1:c.9935_9936insATGGG	NP_060360.3:p.Ser3312ArgfsTer6
NM_152564.4:c.9860_9861insATGGG , LRG_351t2:c.9860_9861insATGGG	NP_689777.3:p.Ser3287ArgfsTer6
XM_005250800.2:c.9935_9936insATGGG	XP_005250857.1:p.Ser3312ArgfsTer6
XM_005250801.3:c.9935_9936insATGGG	XP_005250858.1:p.Ser3312ArgfsTer6
XM_011516848.1:c.9932_9933insATGGG	XP_011515150.1:p.Ser3311ArgfsTer6
XM_011516849.1:c.9857_9858insATGGG	XP_011515151.1:p.Ser3286ArgfsTer6
XM_011516850.1:c.9557_9558insATGGG	XP_011515152.1:p.Ser3186ArgfsTer6
XM_011516851.1:c.6821_6822insATGGG	XP_011515153.1:p.Ser2274ArgfsTer6
XM_011516852.1:c.6821_6822insATGGG	XP_011515154.1:p.Ser2274ArgfsTer6
XM_011516854.1:c.5714_5715insATGGG	XP_011515156.1:p.Ser1905ArgfsTer6
XM_005250800.3:c.9935_9936insATGGG	XP_005250857.1:p.Ser3312ArgfsTer6
XM_005250801.5:c.9935_9936insATGGG	XP_005250858.1:p.Ser3312ArgfsTer6
XM_011516848.2:c.9932_9933insATGGG	XP_011515150.1:p.Ser3311ArgfsTer6
XM_011516849.2:c.9857_9858insATGGG	XP_011515151.1:p.Ser3286ArgfsTer6
XM_011516850.2:c.9557_9558insATGGG	XP_011515152.1:p.Ser3186ArgfsTer6
XM_011516851.2:c.6821_6822insATGGG	XP_011515153.1:p.Ser2274ArgfsTer6
XM_011516852.2:c.6821_6822insATGGG	XP_011515154.1:p.Ser2274ArgfsTer6
XM_011516854.2:c.5714_5715insATGGG	XP_011515156.1:p.Ser1905ArgfsTer6
XM_017013109.1:c.9740_9741insATGGG	XP_016868598.1:p.Ser3247ArgfsTer6
XM_017013111.1:c.6821_6822insATGGG	XP_016868600.1:p.Ser2274ArgfsTer6
XM_017013112.1:c.5492_5493insATGGG	XP_016868601.1:p.Ser1831ArgfsTer6
XM_024447074.1:c.8720_8721insATGGG	XP_024302842.1:p.Ser2907ArgfsTer6
NM_017890.5:c.9935_9936insATGGG MANE Plus Clinical	NP_060360.3:p.Ser3312ArgfsTer6
NM_152564.5:c.9860_9861insATGGG MANE Select	NP_689777.3:p.Ser3287ArgfsTer6