Canonical Allele Identifier: CA4824093

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99720491del , CM000670.2:g.99720491del	GRCh38
NC_000008.10:g.100732719del , CM000670.1:g.100732719del	GRCh37
NC_000008.9:g.100801895del	NCBI36
NG_007098.2:g.712226del , LRG_351:g.712226del

Transcript Alleles

HGVS	Amino-acid Change
NM_152564.5:c.6804del MANE Select	NP_689777.3:p.Phe2268LeufsTer24
ENST00000357162.7:c.6804del MANE Select	ENSP00000349685.2:p.Phe2268LeufsTer24
NM_017890.5:c.6879del MANE Plus Clinical	NP_060360.3:p.Phe2293LeufsTer24
ENST00000358544.7:c.6879del MANE Plus Clinical	ENSP00000351346.2:p.Phe2293LeufsTer24
NM_017890.4:c.6879del , LRG_351t1:c.6879del	NP_060360.3:p.Phe2293LeufsTer24
NM_152564.4:c.6804del , LRG_351t2:c.6804del	NP_689777.3:p.Phe2268LeufsTer24
ENST00000357162.6:c.6804del	ENSP00000349685.2:p.Phe2268LeufsTer24
ENST00000358544.6:c.6879del	ENSP00000351346.2:p.Phe2293LeufsTer24
ENST00000682153.1:c.6879del	ENSP00000507923.1:p.Phe2293LeufsTer24
ENST00000682358.1:n.6949del
ENST00000683334.1:c.*2561del	ENSP00000507369.1:n.*2561del
XM_005250800.2:c.6879del	XP_005250857.1:p.Phe2293LeufsTer24
XM_005250800.3:c.6879del	XP_005250857.1:p.Phe2293LeufsTer24
XM_005250801.3:c.6879del	XP_005250858.1:p.Phe2293LeufsTer24
XM_005250801.5:c.6879del	XP_005250858.1:p.Phe2293LeufsTer24
XM_011516848.1:c.6876del	XP_011515150.1:p.Phe2292LeufsTer24
XM_011516848.2:c.6876del	XP_011515150.1:p.Phe2292LeufsTer24
XM_011516849.1:c.6801del	XP_011515151.1:p.Phe2267LeufsTer24
XM_011516849.2:c.6801del	XP_011515151.1:p.Phe2267LeufsTer24
XM_011516850.1:c.6501del	XP_011515152.1:p.Phe2167LeufsTer24
XM_011516850.2:c.6501del	XP_011515152.1:p.Phe2167LeufsTer24
XM_011516851.1:c.3765del	XP_011515153.1:p.Phe1255LeufsTer24
XM_011516851.2:c.3765del	XP_011515153.1:p.Phe1255LeufsTer24
XM_011516852.1:c.3765del	XP_011515154.1:p.Phe1255LeufsTer24
XM_011516852.2:c.3765del	XP_011515154.1:p.Phe1255LeufsTer24
XM_011516853.1:c.6879del	XP_011515155.1:p.Phe2293LeufsTer24
XM_011516853.2:c.6879del	XP_011515155.1:p.Phe2293LeufsTer24
XM_011516854.1:c.2658del	XP_011515156.1:p.Phe886LeufsTer24
XM_011516854.2:c.2658del	XP_011515156.1:p.Phe886LeufsTer24
XM_017013109.1:c.6684del	XP_016868598.1:p.Phe2228LeufsTer24
XM_017013111.1:c.3765del	XP_016868600.1:p.Phe1255LeufsTer24
XM_017013112.1:c.2436del	XP_016868601.1:p.Phe812LeufsTer24
XM_024447074.1:c.5664del	XP_024302842.1:p.Phe1888LeufsTer24
XR_928446.1:n.2066-1276del