Canonical Allele Identifier: CA2688071172

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99835665-T-TGA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99835669_99835670dup , CM000670.2:g.99835669_99835670dup	GRCh38
NC_000008.10:g.100847897_100847898dup , CM000670.1:g.100847897_100847898dup	GRCh37
NC_000008.9:g.100917073_100917074dup	NCBI36
NG_007098.2:g.827404_827405dup , LRG_351:g.827404_827405dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.9948_9949dup	ENSP00000507923.1:p.Val3317GlufsTer5
ENST00000682358.1:n.10018_10019dup
ENST00000683334.1:c.*5630_*5631dup	ENSP00000507369.1:n.*5630_*5631dup
ENST00000357162.7:c.9873_9874dup MANE Select	ENSP00000349685.2:p.Val3292GlufsTer5
ENST00000358544.7:c.9948_9949dup MANE Plus Clinical	ENSP00000351346.2:p.Val3317GlufsTer5
ENST00000357162.6:c.9873_9874dup	ENSP00000349685.2:p.Val3292GlufsTer5
ENST00000358544.6:c.9948_9949dup	ENSP00000351346.2:p.Val3317GlufsTer5
NM_017890.4:c.9948_9949dup , LRG_351t1:c.9948_9949dup	NP_060360.3:p.Val3317GlufsTer5
NM_152564.4:c.9873_9874dup , LRG_351t2:c.9873_9874dup	NP_689777.3:p.Val3292GlufsTer5
XM_005250800.2:c.9948_9949dup	XP_005250857.1:p.Val3317GlufsTer5
XM_005250801.3:c.9948_9949dup	XP_005250858.1:p.Val3317GlufsTer5
XM_011516848.1:c.9945_9946dup	XP_011515150.1:p.Val3316GlufsTer5
XM_011516849.1:c.9870_9871dup	XP_011515151.1:p.Val3291GlufsTer5
XM_011516850.1:c.9570_9571dup	XP_011515152.1:p.Val3191GlufsTer5
XM_011516851.1:c.6834_6835dup	XP_011515153.1:p.Val2279GlufsTer5
XM_011516852.1:c.6834_6835dup	XP_011515154.1:p.Val2279GlufsTer5
XM_011516854.1:c.5727_5728dup	XP_011515156.1:p.Val1910GlufsTer5
XM_005250800.3:c.9948_9949dup	XP_005250857.1:p.Val3317GlufsTer5
XM_005250801.5:c.9948_9949dup	XP_005250858.1:p.Val3317GlufsTer5
XM_011516848.2:c.9945_9946dup	XP_011515150.1:p.Val3316GlufsTer5
XM_011516849.2:c.9870_9871dup	XP_011515151.1:p.Val3291GlufsTer5
XM_011516850.2:c.9570_9571dup	XP_011515152.1:p.Val3191GlufsTer5
XM_011516851.2:c.6834_6835dup	XP_011515153.1:p.Val2279GlufsTer5
XM_011516852.2:c.6834_6835dup	XP_011515154.1:p.Val2279GlufsTer5
XM_011516854.2:c.5727_5728dup	XP_011515156.1:p.Val1910GlufsTer5
XM_017013109.1:c.9753_9754dup	XP_016868598.1:p.Val3252GlufsTer5
XM_017013111.1:c.6834_6835dup	XP_016868600.1:p.Val2279GlufsTer5
XM_017013112.1:c.5505_5506dup	XP_016868601.1:p.Val1836GlufsTer5
XM_024447074.1:c.8733_8734dup	XP_024302842.1:p.Val2912GlufsTer5
NM_017890.5:c.9948_9949dup MANE Plus Clinical	NP_060360.3:p.Val3317GlufsTer5
NM_152564.5:c.9873_9874dup MANE Select	NP_689777.3:p.Val3292GlufsTer5