Canonical Allele Identifier: CA583856893

Gene: VPS13B COX6C

Linked Data

• dbSNP Id: rs1269804601
• gnomAD v2: 8-100887736-TG-T
• gnomAD v4: 8-99875508-TG-T
• MyVariant Identifiers: chr8:g.100887737del (hg19) ; chr8:g.99875509del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875509del , CM000670.2:g.99875509del	GRCh38
NC_000008.10:g.100887737del , CM000670.1:g.100887737del	GRCh37
NC_000008.9:g.100956913del	NCBI36
NG_007098.2:g.867244del , LRG_351:g.867244del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1566del (VPS13B)	ENSP00000507923.1:n.*1566del
ENST00000682358.1:n.12542del (VPS13B)
ENST00000683334.1:c.*7594del (VPS13B)	ENSP00000507369.1:n.*7594del
ENST00000357162.7:c.11837del (VPS13B) MANE Select	ENSP00000349685.2:p.Cys3946PhefsTer?
ENST00000358544.7:c.11912del (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Cys3971PhefsTer?
ENST00000357162.6:c.11837del (VPS13B)	ENSP00000349685.2:p.Cys3946PhefsTer?
ENST00000358544.6:c.11912del (VPS13B)	ENSP00000351346.2:p.Cys3971PhefsTer?
ENST00000493587.1:n.1414del (VPS13B)
ENST00000520517.5:c.*142-417del (COX6C)	ENSP00000429991.1:n.*142-417del
ENST00000522934.5:c.*142-2216del (COX6C)	ENSP00000428702.1:n.*142-2216del
NM_017890.4:c.11912del , LRG_351t1:c.11912del (VPS13B)	NP_060360.3:p.Cys3971PhefsTer?
NM_152564.4:c.11837del , LRG_351t2:c.11837del (VPS13B)	NP_689777.3:p.Cys3946PhefsTer?
XM_005250800.2:c.11912del (VPS13B)	XP_005250857.1:p.Cys3971PhefsTer?
XM_005250801.3:c.11912del (VPS13B)	XP_005250858.1:p.Cys3971PhefsTer?
XM_011516848.1:c.11909del (VPS13B)	XP_011515150.1:p.Cys3970PhefsTer?
XM_011516849.1:c.11834del (VPS13B)	XP_011515151.1:p.Cys3945PhefsTer?
XM_011516850.1:c.11534del (VPS13B)	XP_011515152.1:p.Cys3845PhefsTer?
XM_011516851.1:c.8798del (VPS13B)	XP_011515153.1:p.Cys2933PhefsTer?
XM_011516852.1:c.8798del (VPS13B)	XP_011515154.1:p.Cys2933PhefsTer?
XM_011516854.1:c.7691del (VPS13B)	XP_011515156.1:p.Cys2564PhefsTer?
XM_005250800.3:c.11912del (VPS13B)	XP_005250857.1:p.Cys3971PhefsTer?
XM_005250801.5:c.11912del (VPS13B)	XP_005250858.1:p.Cys3971PhefsTer?
XM_011516848.2:c.11909del (VPS13B)	XP_011515150.1:p.Cys3970PhefsTer?
XM_011516849.2:c.11834del (VPS13B)	XP_011515151.1:p.Cys3945PhefsTer?
XM_011516850.2:c.11534del (VPS13B)	XP_011515152.1:p.Cys3845PhefsTer?
XM_011516851.2:c.8798del (VPS13B)	XP_011515153.1:p.Cys2933PhefsTer?
XM_011516852.2:c.8798del (VPS13B)	XP_011515154.1:p.Cys2933PhefsTer?
XM_011516854.2:c.7691del (VPS13B)	XP_011515156.1:p.Cys2564PhefsTer?
XM_017013109.1:c.11717del (VPS13B)	XP_016868598.1:p.Cys3906PhefsTer?
XM_017013111.1:c.8798del (VPS13B)	XP_016868600.1:p.Cys2933PhefsTer?
XM_017013112.1:c.7469del (VPS13B)	XP_016868601.1:p.Cys2490PhefsTer?
XM_024447074.1:c.10697del (VPS13B)	XP_024302842.1:p.Cys3566PhefsTer?
NM_017890.5:c.11912del (VPS13B) MANE Plus Clinical	NP_060360.3:p.Cys3971PhefsTer?
NM_152564.5:c.11837del (VPS13B) MANE Select	NP_689777.3:p.Cys3946PhefsTer?