Canonical Allele Identifier: CA2580079168

Gene: VPS13B COX6C

Linked Data

• ClinVar Variation Id: 2086385
• ClinVar RCV Id: RCV002999762

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875566_99875567dup , CM000670.2:g.99875566_99875567dup	GRCh38
NC_000008.10:g.100887794_100887795dup , CM000670.1:g.100887794_100887795dup	GRCh37
NC_000008.9:g.100956970_100956971dup	NCBI36
NG_007098.2:g.867301_867302dup , LRG_351:g.867301_867302dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1623_*1624dup (VPS13B)	ENSP00000507923.1:n.*1623_*1624dup
ENST00000682358.1:n.12599_12600dup (VPS13B)
ENST00000683334.1:c.*7651_*7652dup (VPS13B)	ENSP00000507369.1:n.*7651_*7652dup
ENST00000357162.7:c.11894_11895dup (VPS13B) MANE Select	ENSP00000349685.2:p.Lys3966LeufsTer23
ENST00000358544.7:c.11969_11970dup (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Lys3991LeufsTer23
ENST00000357162.6:c.11894_11895dup (VPS13B)	ENSP00000349685.2:p.Lys3966LeufsTer23
ENST00000358544.6:c.11969_11970dup (VPS13B)	ENSP00000351346.2:p.Lys3991LeufsTer23
ENST00000493587.1:n.1471_1472dup (VPS13B)
ENST00000520517.5:c.*142-475_*142-474dup (COX6C)	ENSP00000429991.1:n.*142-475_*142-474dup
ENST00000522934.5:c.*142-2274_*142-2273dup (COX6C)	ENSP00000428702.1:n.*142-2274_*142-2273dup
NM_017890.4:c.11969_11970dup , LRG_351t1:c.11969_11970dup (VPS13B)	NP_060360.3:p.Lys3991LeufsTer23
NM_152564.4:c.11894_11895dup , LRG_351t2:c.11894_11895dup (VPS13B)	NP_689777.3:p.Lys3966LeufsTer23
XM_005250800.2:c.11969_11970dup (VPS13B)	XP_005250857.1:p.Lys3991LeufsTer23
XM_005250801.3:c.11969_11970dup (VPS13B)	XP_005250858.1:p.Lys3991LeufsTer23
XM_011516848.1:c.11966_11967dup (VPS13B)	XP_011515150.1:p.Lys3990LeufsTer23
XM_011516849.1:c.11891_11892dup (VPS13B)	XP_011515151.1:p.Lys3965LeufsTer23
XM_011516850.1:c.11591_11592dup (VPS13B)	XP_011515152.1:p.Lys3865LeufsTer23
XM_011516851.1:c.8855_8856dup (VPS13B)	XP_011515153.1:p.Lys2953LeufsTer23
XM_011516852.1:c.8855_8856dup (VPS13B)	XP_011515154.1:p.Lys2953LeufsTer23
XM_011516854.1:c.7748_7749dup (VPS13B)	XP_011515156.1:p.Lys2584LeufsTer23
XM_005250800.3:c.11969_11970dup (VPS13B)	XP_005250857.1:p.Lys3991LeufsTer23
XM_005250801.5:c.11969_11970dup (VPS13B)	XP_005250858.1:p.Lys3991LeufsTer23
XM_011516848.2:c.11966_11967dup (VPS13B)	XP_011515150.1:p.Lys3990LeufsTer23
XM_011516849.2:c.11891_11892dup (VPS13B)	XP_011515151.1:p.Lys3965LeufsTer23
XM_011516850.2:c.11591_11592dup (VPS13B)	XP_011515152.1:p.Lys3865LeufsTer23
XM_011516851.2:c.8855_8856dup (VPS13B)	XP_011515153.1:p.Lys2953LeufsTer23
XM_011516852.2:c.8855_8856dup (VPS13B)	XP_011515154.1:p.Lys2953LeufsTer23
XM_011516854.2:c.7748_7749dup (VPS13B)	XP_011515156.1:p.Lys2584LeufsTer23
XM_017013109.1:c.11774_11775dup (VPS13B)	XP_016868598.1:p.Lys3926LeufsTer23
XM_017013111.1:c.8855_8856dup (VPS13B)	XP_016868600.1:p.Lys2953LeufsTer23
XM_017013112.1:c.7526_7527dup (VPS13B)	XP_016868601.1:p.Lys2510LeufsTer23
XM_024447074.1:c.10754_10755dup (VPS13B)	XP_024302842.1:p.Lys3586LeufsTer23
NM_017890.5:c.11969_11970dup (VPS13B) MANE Plus Clinical	NP_060360.3:p.Lys3991LeufsTer23
NM_152564.5:c.11894_11895dup (VPS13B) MANE Select	NP_689777.3:p.Lys3966LeufsTer23