Canonical Allele Identifier: CA2843184872

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861899dup , CM000670.2:g.99861899dup	GRCh38
NC_000008.10:g.100874127dup , CM000670.1:g.100874127dup	GRCh37
NC_000008.9:g.100943303dup	NCBI36
NG_007098.2:g.853634dup , LRG_351:g.853634dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*337dup	ENSP00000507923.1:n.*337dup
ENST00000682358.1:n.11313dup
ENST00000683334.1:c.*6925dup	ENSP00000507369.1:n.*6925dup
ENST00000357162.7:c.11168dup MANE Select	ENSP00000349685.2:p.Glu3724ArgfsTer23
ENST00000358544.7:c.11243dup MANE Plus Clinical	ENSP00000351346.2:p.Glu3749ArgfsTer23
ENST00000357162.6:c.11168dup	ENSP00000349685.2:p.Glu3724ArgfsTer23
ENST00000358544.6:c.11243dup	ENSP00000351346.2:p.Glu3749ArgfsTer23
NM_017890.4:c.11243dup , LRG_351t1:c.11243dup	NP_060360.3:p.Glu3749ArgfsTer23
NM_152564.4:c.11168dup , LRG_351t2:c.11168dup	NP_689777.3:p.Glu3724ArgfsTer23
XM_005250800.2:c.11243dup	XP_005250857.1:p.Glu3749ArgfsTer23
XM_005250801.3:c.11243dup	XP_005250858.1:p.Glu3749ArgfsTer23
XM_011516848.1:c.11240dup	XP_011515150.1:p.Glu3748ArgfsTer23
XM_011516849.1:c.11165dup	XP_011515151.1:p.Glu3723ArgfsTer23
XM_011516850.1:c.10865dup	XP_011515152.1:p.Glu3623ArgfsTer23
XM_011516851.1:c.8129dup	XP_011515153.1:p.Glu2711ArgfsTer23
XM_011516852.1:c.8129dup	XP_011515154.1:p.Glu2711ArgfsTer23
XM_011516854.1:c.7022dup	XP_011515156.1:p.Glu2342ArgfsTer23
XM_005250800.3:c.11243dup	XP_005250857.1:p.Glu3749ArgfsTer23
XM_005250801.5:c.11243dup	XP_005250858.1:p.Glu3749ArgfsTer23
XM_011516848.2:c.11240dup	XP_011515150.1:p.Glu3748ArgfsTer23
XM_011516849.2:c.11165dup	XP_011515151.1:p.Glu3723ArgfsTer23
XM_011516850.2:c.10865dup	XP_011515152.1:p.Glu3623ArgfsTer23
XM_011516851.2:c.8129dup	XP_011515153.1:p.Glu2711ArgfsTer23
XM_011516852.2:c.8129dup	XP_011515154.1:p.Glu2711ArgfsTer23
XM_011516854.2:c.7022dup	XP_011515156.1:p.Glu2342ArgfsTer23
XM_017013109.1:c.11048dup	XP_016868598.1:p.Glu3684ArgfsTer23
XM_017013111.1:c.8129dup	XP_016868600.1:p.Glu2711ArgfsTer23
XM_017013112.1:c.6800dup	XP_016868601.1:p.Glu2268ArgfsTer23
XM_024447074.1:c.10028dup	XP_024302842.1:p.Glu3344ArgfsTer23
NM_017890.5:c.11243dup MANE Plus Clinical	NP_060360.3:p.Glu3749ArgfsTer23
NM_152564.5:c.11168dup MANE Select	NP_689777.3:p.Glu3724ArgfsTer23