Canonical Allele Identifier: CA913128159

Gene: VPS13B COX6C

Linked Data

• MyVariant Identifiers: chr8:g.100887791dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875563dup , CM000670.2:g.99875563dup	GRCh38
NC_000008.10:g.100887791dup , CM000670.1:g.100887791dup	GRCh37
NC_000008.9:g.100956967dup	NCBI36
NG_007098.2:g.867298dup , LRG_351:g.867298dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*1620dup (VPS13B)	ENSP00000507923.1:n.*1620dup
ENST00000682358.1:n.12596dup (VPS13B)
ENST00000683334.1:c.*7648dup (VPS13B)	ENSP00000507369.1:n.*7648dup
ENST00000357162.7:c.11891dup (VPS13B) MANE Select	ENSP00000349685.2:p.Val3965CysfsTer2
ENST00000358544.7:c.11966dup (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Val3990CysfsTer2
ENST00000357162.6:c.11891dup (VPS13B)	ENSP00000349685.2:p.Val3965CysfsTer2
ENST00000358544.6:c.11966dup (VPS13B)	ENSP00000351346.2:p.Val3990CysfsTer2
ENST00000493587.1:n.1468dup (VPS13B)
ENST00000520517.5:c.*142-471dup (COX6C)	ENSP00000429991.1:n.*142-471dup
ENST00000522934.5:c.*142-2270dup (COX6C)	ENSP00000428702.1:n.*142-2270dup
NM_017890.4:c.11966dup , LRG_351t1:c.11966dup (VPS13B)	NP_060360.3:p.Val3990CysfsTer2
NM_152564.4:c.11891dup , LRG_351t2:c.11891dup (VPS13B)	NP_689777.3:p.Val3965CysfsTer2
XM_005250800.2:c.11966dup (VPS13B)	XP_005250857.1:p.Val3990CysfsTer2
XM_005250801.3:c.11966dup (VPS13B)	XP_005250858.1:p.Val3990CysfsTer2
XM_011516848.1:c.11963dup (VPS13B)	XP_011515150.1:p.Val3989CysfsTer2
XM_011516849.1:c.11888dup (VPS13B)	XP_011515151.1:p.Val3964CysfsTer2
XM_011516850.1:c.11588dup (VPS13B)	XP_011515152.1:p.Val3864CysfsTer2
XM_011516851.1:c.8852dup (VPS13B)	XP_011515153.1:p.Val2952CysfsTer2
XM_011516852.1:c.8852dup (VPS13B)	XP_011515154.1:p.Val2952CysfsTer2
XM_011516854.1:c.7745dup (VPS13B)	XP_011515156.1:p.Val2583CysfsTer2
XM_005250800.3:c.11966dup (VPS13B)	XP_005250857.1:p.Val3990CysfsTer2
XM_005250801.5:c.11966dup (VPS13B)	XP_005250858.1:p.Val3990CysfsTer2
XM_011516848.2:c.11963dup (VPS13B)	XP_011515150.1:p.Val3989CysfsTer2
XM_011516849.2:c.11888dup (VPS13B)	XP_011515151.1:p.Val3964CysfsTer2
XM_011516850.2:c.11588dup (VPS13B)	XP_011515152.1:p.Val3864CysfsTer2
XM_011516851.2:c.8852dup (VPS13B)	XP_011515153.1:p.Val2952CysfsTer2
XM_011516852.2:c.8852dup (VPS13B)	XP_011515154.1:p.Val2952CysfsTer2
XM_011516854.2:c.7745dup (VPS13B)	XP_011515156.1:p.Val2583CysfsTer2
XM_017013109.1:c.11771dup (VPS13B)	XP_016868598.1:p.Val3925CysfsTer2
XM_017013111.1:c.8852dup (VPS13B)	XP_016868600.1:p.Val2952CysfsTer2
XM_017013112.1:c.7523dup (VPS13B)	XP_016868601.1:p.Val2509CysfsTer2
XM_024447074.1:c.10751dup (VPS13B)	XP_024302842.1:p.Val3585CysfsTer2
NM_017890.5:c.11966dup (VPS13B) MANE Plus Clinical	NP_060360.3:p.Val3990CysfsTer2
NM_152564.5:c.11891dup (VPS13B) MANE Select	NP_689777.3:p.Val3965CysfsTer2