Canonical Allele Identifier: CA2718038867

Gene: VPS13B

Linked Data

• dbSNP Id: rs2130816439

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99819581_99819582del , CM000670.2:g.99819581_99819582del	GRCh38
NC_000008.10:g.100831809_100831810del , CM000670.1:g.100831809_100831810del	GRCh37
NC_000008.9:g.100900985_100900986del	NCBI36
NG_007098.2:g.811316_811317del , LRG_351:g.811316_811317del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.8866_8867del	ENSP00000507923.1:p.Arg2956GlufsTer2
ENST00000682358.1:n.8936_8937del
ENST00000683334.1:c.*4548_*4549del	ENSP00000507369.1:n.*4548_*4549del
ENST00000357162.7:c.8791_8792del MANE Select	ENSP00000349685.2:p.Arg2931GlufsTer2
ENST00000358544.7:c.8866_8867del MANE Plus Clinical	ENSP00000351346.2:p.Arg2956GlufsTer2
ENST00000357162.6:c.8791_8792del	ENSP00000349685.2:p.Arg2931GlufsTer2
ENST00000358544.6:c.8866_8867del	ENSP00000351346.2:p.Arg2956GlufsTer2
NM_017890.4:c.8866_8867del , LRG_351t1:c.8866_8867del	NP_060360.3:p.Arg2956GlufsTer2
NM_152564.4:c.8791_8792del , LRG_351t2:c.8791_8792del	NP_689777.3:p.Arg2931GlufsTer2
XM_005250800.2:c.8866_8867del	XP_005250857.1:p.Arg2956GlufsTer2
XM_005250801.3:c.8866_8867del	XP_005250858.1:p.Arg2956GlufsTer2
XM_011516848.1:c.8863_8864del	XP_011515150.1:p.Arg2955GlufsTer2
XM_011516849.1:c.8788_8789del	XP_011515151.1:p.Arg2930GlufsTer2
XM_011516850.1:c.8488_8489del	XP_011515152.1:p.Arg2830GlufsTer2
XM_011516851.1:c.5752_5753del	XP_011515153.1:p.Arg1918GlufsTer2
XM_011516852.1:c.5752_5753del	XP_011515154.1:p.Arg1918GlufsTer2
XM_011516854.1:c.4645_4646del	XP_011515156.1:p.Arg1549GlufsTer2
XM_005250800.3:c.8866_8867del	XP_005250857.1:p.Arg2956GlufsTer2
XM_005250801.5:c.8866_8867del	XP_005250858.1:p.Arg2956GlufsTer2
XM_011516848.2:c.8863_8864del	XP_011515150.1:p.Arg2955GlufsTer2
XM_011516849.2:c.8788_8789del	XP_011515151.1:p.Arg2930GlufsTer2
XM_011516850.2:c.8488_8489del	XP_011515152.1:p.Arg2830GlufsTer2
XM_011516851.2:c.5752_5753del	XP_011515153.1:p.Arg1918GlufsTer2
XM_011516852.2:c.5752_5753del	XP_011515154.1:p.Arg1918GlufsTer2
XM_011516854.2:c.4645_4646del	XP_011515156.1:p.Arg1549GlufsTer2
XM_017013109.1:c.8671_8672del	XP_016868598.1:p.Arg2891GlufsTer2
XM_017013111.1:c.5752_5753del	XP_016868600.1:p.Arg1918GlufsTer2
XM_017013112.1:c.4423_4424del	XP_016868601.1:p.Arg1475GlufsTer2
XM_024447074.1:c.7651_7652del	XP_024302842.1:p.Arg2551GlufsTer2
NM_017890.5:c.8866_8867del MANE Plus Clinical	NP_060360.3:p.Arg2956GlufsTer2
NM_152564.5:c.8791_8792del MANE Select	NP_689777.3:p.Arg2931GlufsTer2