Canonical Allele Identifier: CA2843184873

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861911dup , CM000670.2:g.99861911dup	GRCh38
NC_000008.10:g.100874139dup , CM000670.1:g.100874139dup	GRCh37
NC_000008.9:g.100943315dup	NCBI36
NG_007098.2:g.853646dup , LRG_351:g.853646dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*349dup	ENSP00000507923.1:n.*349dup
ENST00000682358.1:n.11325dup
ENST00000683334.1:c.*6937dup	ENSP00000507369.1:n.*6937dup
ENST00000357162.7:c.11180dup MANE Select	ENSP00000349685.2:p.Gln3728ThrfsTer19
ENST00000358544.7:c.11255dup MANE Plus Clinical	ENSP00000351346.2:p.Gln3753ThrfsTer19
ENST00000357162.6:c.11180dup	ENSP00000349685.2:p.Gln3728ThrfsTer19
ENST00000358544.6:c.11255dup	ENSP00000351346.2:p.Gln3753ThrfsTer19
NM_017890.4:c.11255dup , LRG_351t1:c.11255dup	NP_060360.3:p.Gln3753ThrfsTer19
NM_152564.4:c.11180dup , LRG_351t2:c.11180dup	NP_689777.3:p.Gln3728ThrfsTer19
XM_005250800.2:c.11255dup	XP_005250857.1:p.Gln3753ThrfsTer19
XM_005250801.3:c.11255dup	XP_005250858.1:p.Gln3753ThrfsTer19
XM_011516848.1:c.11252dup	XP_011515150.1:p.Gln3752ThrfsTer19
XM_011516849.1:c.11177dup	XP_011515151.1:p.Gln3727ThrfsTer19
XM_011516850.1:c.10877dup	XP_011515152.1:p.Gln3627ThrfsTer19
XM_011516851.1:c.8141dup	XP_011515153.1:p.Gln2715ThrfsTer19
XM_011516852.1:c.8141dup	XP_011515154.1:p.Gln2715ThrfsTer19
XM_011516854.1:c.7034dup	XP_011515156.1:p.Gln2346ThrfsTer19
XM_005250800.3:c.11255dup	XP_005250857.1:p.Gln3753ThrfsTer19
XM_005250801.5:c.11255dup	XP_005250858.1:p.Gln3753ThrfsTer19
XM_011516848.2:c.11252dup	XP_011515150.1:p.Gln3752ThrfsTer19
XM_011516849.2:c.11177dup	XP_011515151.1:p.Gln3727ThrfsTer19
XM_011516850.2:c.10877dup	XP_011515152.1:p.Gln3627ThrfsTer19
XM_011516851.2:c.8141dup	XP_011515153.1:p.Gln2715ThrfsTer19
XM_011516852.2:c.8141dup	XP_011515154.1:p.Gln2715ThrfsTer19
XM_011516854.2:c.7034dup	XP_011515156.1:p.Gln2346ThrfsTer19
XM_017013109.1:c.11060dup	XP_016868598.1:p.Gln3688ThrfsTer19
XM_017013111.1:c.8141dup	XP_016868600.1:p.Gln2715ThrfsTer19
XM_017013112.1:c.6812dup	XP_016868601.1:p.Gln2272ThrfsTer19
XM_024447074.1:c.10040dup	XP_024302842.1:p.Gln3348ThrfsTer19
NM_017890.5:c.11255dup MANE Plus Clinical	NP_060360.3:p.Gln3753ThrfsTer19
NM_152564.5:c.11180dup MANE Select	NP_689777.3:p.Gln3728ThrfsTer19