Canonical Allele Identifier: CA913128158

Gene: VPS13B COX6C

Linked Data

• MyVariant Identifiers: chr8:g.100887748dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875520dup , CM000670.2:g.99875520dup	GRCh38
NC_000008.10:g.100887748dup , CM000670.1:g.100887748dup	GRCh37
NC_000008.9:g.100956924dup	NCBI36
NG_007098.2:g.867255dup , LRG_351:g.867255dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1577dup (VPS13B)	ENSP00000507923.1:n.*1577dup
ENST00000682358.1:n.12553dup (VPS13B)
ENST00000683334.1:c.*7605dup (VPS13B)	ENSP00000507369.1:n.*7605dup
ENST00000357162.7:c.11848dup (VPS13B) MANE Select	ENSP00000349685.2:p.Gln3950ProfsTer17
ENST00000358544.7:c.11923dup (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Gln3975ProfsTer17
ENST00000357162.6:c.11848dup (VPS13B)	ENSP00000349685.2:p.Gln3950ProfsTer17
ENST00000358544.6:c.11923dup (VPS13B)	ENSP00000351346.2:p.Gln3975ProfsTer17
ENST00000493587.1:n.1425dup (VPS13B)
ENST00000520517.5:c.*142-428dup (COX6C)	ENSP00000429991.1:n.*142-428dup
ENST00000522934.5:c.*142-2227dup (COX6C)	ENSP00000428702.1:n.*142-2227dup
NM_017890.4:c.11923dup , LRG_351t1:c.11923dup (VPS13B)	NP_060360.3:p.Gln3975ProfsTer17
NM_152564.4:c.11848dup , LRG_351t2:c.11848dup (VPS13B)	NP_689777.3:p.Gln3950ProfsTer17
XM_005250800.2:c.11923dup (VPS13B)	XP_005250857.1:p.Gln3975ProfsTer17
XM_005250801.3:c.11923dup (VPS13B)	XP_005250858.1:p.Gln3975ProfsTer17
XM_011516848.1:c.11920dup (VPS13B)	XP_011515150.1:p.Gln3974ProfsTer17
XM_011516849.1:c.11845dup (VPS13B)	XP_011515151.1:p.Gln3949ProfsTer17
XM_011516850.1:c.11545dup (VPS13B)	XP_011515152.1:p.Gln3849ProfsTer17
XM_011516851.1:c.8809dup (VPS13B)	XP_011515153.1:p.Gln2937ProfsTer17
XM_011516852.1:c.8809dup (VPS13B)	XP_011515154.1:p.Gln2937ProfsTer17
XM_011516854.1:c.7702dup (VPS13B)	XP_011515156.1:p.Gln2568ProfsTer17
XM_005250800.3:c.11923dup (VPS13B)	XP_005250857.1:p.Gln3975ProfsTer17
XM_005250801.5:c.11923dup (VPS13B)	XP_005250858.1:p.Gln3975ProfsTer17
XM_011516848.2:c.11920dup (VPS13B)	XP_011515150.1:p.Gln3974ProfsTer17
XM_011516849.2:c.11845dup (VPS13B)	XP_011515151.1:p.Gln3949ProfsTer17
XM_011516850.2:c.11545dup (VPS13B)	XP_011515152.1:p.Gln3849ProfsTer17
XM_011516851.2:c.8809dup (VPS13B)	XP_011515153.1:p.Gln2937ProfsTer17
XM_011516852.2:c.8809dup (VPS13B)	XP_011515154.1:p.Gln2937ProfsTer17
XM_011516854.2:c.7702dup (VPS13B)	XP_011515156.1:p.Gln2568ProfsTer17
XM_017013109.1:c.11728dup (VPS13B)	XP_016868598.1:p.Gln3910ProfsTer17
XM_017013111.1:c.8809dup (VPS13B)	XP_016868600.1:p.Gln2937ProfsTer17
XM_017013112.1:c.7480dup (VPS13B)	XP_016868601.1:p.Gln2494ProfsTer17
XM_024447074.1:c.10708dup (VPS13B)	XP_024302842.1:p.Gln3570ProfsTer17
NM_017890.5:c.11923dup (VPS13B) MANE Plus Clinical	NP_060360.3:p.Gln3975ProfsTer17
NM_152564.5:c.11848dup (VPS13B) MANE Select	NP_689777.3:p.Gln3950ProfsTer17