Canonical Allele Identifier: CA645558540

Gene: VPS13B COX6C

Linked Data

• COSMIC: COSM4614996 ; COSM4614997

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875558del , CM000670.2:g.99875558del	GRCh38
NC_000008.10:g.100887786del , CM000670.1:g.100887786del	GRCh37
NC_000008.9:g.100956962del	NCBI36
NG_007098.2:g.867293del , LRG_351:g.867293del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1615del (VPS13B)	ENSP00000507923.1:n.*1615del
ENST00000682358.1:n.12591del (VPS13B)
ENST00000683334.1:c.*7643del (VPS13B)	ENSP00000507369.1:n.*7643del
ENST00000357162.7:c.11886del (VPS13B) MANE Select	ENSP00000349685.2:p.Ser3963ProfsTer25
ENST00000358544.7:c.11961del (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Ser3988ProfsTer25
ENST00000357162.6:c.11886del (VPS13B)	ENSP00000349685.2:p.Ser3963ProfsTer25
ENST00000358544.6:c.11961del (VPS13B)	ENSP00000351346.2:p.Ser3988ProfsTer25
ENST00000493587.1:n.1463del (VPS13B)
ENST00000520517.5:c.*142-461del (COX6C)	ENSP00000429991.1:n.*142-461del
ENST00000522934.5:c.*142-2260del (COX6C)	ENSP00000428702.1:n.*142-2260del
NM_017890.4:c.11961del , LRG_351t1:c.11961del (VPS13B)	NP_060360.3:p.Ser3988ProfsTer25
NM_152564.4:c.11886del , LRG_351t2:c.11886del (VPS13B)	NP_689777.3:p.Ser3963ProfsTer25
XM_005250800.2:c.11961del (VPS13B)	XP_005250857.1:p.Ser3988ProfsTer25
XM_005250801.3:c.11961del (VPS13B)	XP_005250858.1:p.Ser3988ProfsTer25
XM_011516848.1:c.11958del (VPS13B)	XP_011515150.1:p.Ser3987ProfsTer25
XM_011516849.1:c.11883del (VPS13B)	XP_011515151.1:p.Ser3962ProfsTer25
XM_011516850.1:c.11583del (VPS13B)	XP_011515152.1:p.Ser3862ProfsTer25
XM_011516851.1:c.8847del (VPS13B)	XP_011515153.1:p.Ser2950ProfsTer25
XM_011516852.1:c.8847del (VPS13B)	XP_011515154.1:p.Ser2950ProfsTer25
XM_011516854.1:c.7740del (VPS13B)	XP_011515156.1:p.Ser2581ProfsTer25
XM_005250800.3:c.11961del (VPS13B)	XP_005250857.1:p.Ser3988ProfsTer25
XM_005250801.5:c.11961del (VPS13B)	XP_005250858.1:p.Ser3988ProfsTer25
XM_011516848.2:c.11958del (VPS13B)	XP_011515150.1:p.Ser3987ProfsTer25
XM_011516849.2:c.11883del (VPS13B)	XP_011515151.1:p.Ser3962ProfsTer25
XM_011516850.2:c.11583del (VPS13B)	XP_011515152.1:p.Ser3862ProfsTer25
XM_011516851.2:c.8847del (VPS13B)	XP_011515153.1:p.Ser2950ProfsTer25
XM_011516852.2:c.8847del (VPS13B)	XP_011515154.1:p.Ser2950ProfsTer25
XM_011516854.2:c.7740del (VPS13B)	XP_011515156.1:p.Ser2581ProfsTer25
XM_017013109.1:c.11766del (VPS13B)	XP_016868598.1:p.Ser3923ProfsTer25
XM_017013111.1:c.8847del (VPS13B)	XP_016868600.1:p.Ser2950ProfsTer25
XM_017013112.1:c.7518del (VPS13B)	XP_016868601.1:p.Ser2507ProfsTer25
XM_024447074.1:c.10746del (VPS13B)	XP_024302842.1:p.Ser3583ProfsTer25
NM_017890.5:c.11961del (VPS13B) MANE Plus Clinical	NP_060360.3:p.Ser3988ProfsTer25
NM_152564.5:c.11886del (VPS13B) MANE Select	NP_689777.3:p.Ser3963ProfsTer25