Canonical Allele Identifier: CA2580079158

Gene: VPS13B COX6C

Linked Data

• ClinVar Variation Id: 2160893
• ClinVar RCV Id: RCV003087771

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875504del , CM000670.2:g.99875504del	GRCh38
NC_000008.10:g.100887732del , CM000670.1:g.100887732del	GRCh37
NC_000008.9:g.100956908del	NCBI36
NG_007098.2:g.867239del , LRG_351:g.867239del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1561del (VPS13B)	ENSP00000507923.1:n.*1561del
ENST00000682358.1:n.12537del (VPS13B)
ENST00000683334.1:c.*7589del (VPS13B)	ENSP00000507369.1:n.*7589del
ENST00000357162.7:c.11832del (VPS13B) MANE Select	ENSP00000349685.2:p.Ser3945AlafsTer?
ENST00000358544.7:c.11907del (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Ser3970AlafsTer?
ENST00000357162.6:c.11832del (VPS13B)	ENSP00000349685.2:p.Ser3945AlafsTer?
ENST00000358544.6:c.11907del (VPS13B)	ENSP00000351346.2:p.Ser3970AlafsTer?
ENST00000493587.1:n.1409del (VPS13B)
ENST00000520517.5:c.*142-408del (COX6C)	ENSP00000429991.1:n.*142-408del
ENST00000522934.5:c.*142-2207del (COX6C)	ENSP00000428702.1:n.*142-2207del
NM_017890.4:c.11907del , LRG_351t1:c.11907del (VPS13B)	NP_060360.3:p.Ser3970AlafsTer?
NM_152564.4:c.11832del , LRG_351t2:c.11832del (VPS13B)	NP_689777.3:p.Ser3945AlafsTer?
XM_005250800.2:c.11907del (VPS13B)	XP_005250857.1:p.Ser3970AlafsTer?
XM_005250801.3:c.11907del (VPS13B)	XP_005250858.1:p.Ser3970AlafsTer?
XM_011516848.1:c.11904del (VPS13B)	XP_011515150.1:p.Ser3969AlafsTer?
XM_011516849.1:c.11829del (VPS13B)	XP_011515151.1:p.Ser3944AlafsTer?
XM_011516850.1:c.11529del (VPS13B)	XP_011515152.1:p.Ser3844AlafsTer?
XM_011516851.1:c.8793del (VPS13B)	XP_011515153.1:p.Ser2932AlafsTer?
XM_011516852.1:c.8793del (VPS13B)	XP_011515154.1:p.Ser2932AlafsTer?
XM_011516854.1:c.7686del (VPS13B)	XP_011515156.1:p.Ser2563AlafsTer?
XM_005250800.3:c.11907del (VPS13B)	XP_005250857.1:p.Ser3970AlafsTer?
XM_005250801.5:c.11907del (VPS13B)	XP_005250858.1:p.Ser3970AlafsTer?
XM_011516848.2:c.11904del (VPS13B)	XP_011515150.1:p.Ser3969AlafsTer?
XM_011516849.2:c.11829del (VPS13B)	XP_011515151.1:p.Ser3944AlafsTer?
XM_011516850.2:c.11529del (VPS13B)	XP_011515152.1:p.Ser3844AlafsTer?
XM_011516851.2:c.8793del (VPS13B)	XP_011515153.1:p.Ser2932AlafsTer?
XM_011516852.2:c.8793del (VPS13B)	XP_011515154.1:p.Ser2932AlafsTer?
XM_011516854.2:c.7686del (VPS13B)	XP_011515156.1:p.Ser2563AlafsTer?
XM_017013109.1:c.11712del (VPS13B)	XP_016868598.1:p.Ser3905AlafsTer?
XM_017013111.1:c.8793del (VPS13B)	XP_016868600.1:p.Ser2932AlafsTer?
XM_017013112.1:c.7464del (VPS13B)	XP_016868601.1:p.Ser2489AlafsTer?
XM_024447074.1:c.10692del (VPS13B)	XP_024302842.1:p.Ser3565AlafsTer?
NM_017890.5:c.11907del (VPS13B) MANE Plus Clinical	NP_060360.3:p.Ser3970AlafsTer?
NM_152564.5:c.11832del (VPS13B) MANE Select	NP_689777.3:p.Ser3945AlafsTer?