Canonical Allele Identifier: CA4825353

Gene: VPS13B COX6C

Linked Data

• dbSNP Id: rs777709872
• ExAC: 8:100887734 GCTGTTCT / G
• gnomAD v2: 8-100887734-GCTGTTCT-G
• gnomAD v3: 8-99875506-GCTGTTCT-G
• gnomAD v4: 8-99875506-GCTGTTCT-G
• MyVariant Identifiers: chr8:g.100887735_100887741del (hg19) ; chr8:g.99875507_99875513del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875507_99875513del , CM000670.2:g.99875507_99875513del	GRCh38
NC_000008.10:g.100887735_100887741del , CM000670.1:g.100887735_100887741del	GRCh37
NC_000008.9:g.100956911_100956917del	NCBI36
NG_007098.2:g.867242_867248del , LRG_351:g.867242_867248del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1564_*1570del (VPS13B)	ENSP00000507923.1:n.*1564_*1570del
ENST00000682358.1:n.12540_12546del (VPS13B)
ENST00000683334.1:c.*7592_*7598del (VPS13B)	ENSP00000507369.1:n.*7592_*7598del
ENST00000357162.7:c.11835_11841del (VPS13B) MANE Select	ENSP00000349685.2:p.Cys3946ProfsTer?
ENST00000358544.7:c.11910_11916del (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Cys3971ProfsTer?
ENST00000357162.6:c.11835_11841del (VPS13B)	ENSP00000349685.2:p.Cys3946ProfsTer?
ENST00000358544.6:c.11910_11916del (VPS13B)	ENSP00000351346.2:p.Cys3971ProfsTer?
ENST00000493587.1:n.1412_1418del (VPS13B)
ENST00000520517.5:c.*142-421_*142-415del (COX6C)	ENSP00000429991.1:n.*142-421_*142-415del
ENST00000522934.5:c.*142-2220_*142-2214del (COX6C)	ENSP00000428702.1:n.*142-2220_*142-2214del
NM_017890.4:c.11910_11916del , LRG_351t1:c.11910_11916del (VPS13B)	NP_060360.3:p.Cys3971ProfsTer?
NM_152564.4:c.11835_11841del , LRG_351t2:c.11835_11841del (VPS13B)	NP_689777.3:p.Cys3946ProfsTer?
XM_005250800.2:c.11910_11916del (VPS13B)	XP_005250857.1:p.Cys3971ProfsTer?
XM_005250801.3:c.11910_11916del (VPS13B)	XP_005250858.1:p.Cys3971ProfsTer?
XM_011516848.1:c.11907_11913del (VPS13B)	XP_011515150.1:p.Cys3970ProfsTer?
XM_011516849.1:c.11832_11838del (VPS13B)	XP_011515151.1:p.Cys3945ProfsTer?
XM_011516850.1:c.11532_11538del (VPS13B)	XP_011515152.1:p.Cys3845ProfsTer?
XM_011516851.1:c.8796_8802del (VPS13B)	XP_011515153.1:p.Cys2933ProfsTer?
XM_011516852.1:c.8796_8802del (VPS13B)	XP_011515154.1:p.Cys2933ProfsTer?
XM_011516854.1:c.7689_7695del (VPS13B)	XP_011515156.1:p.Cys2564ProfsTer?
XM_005250800.3:c.11910_11916del (VPS13B)	XP_005250857.1:p.Cys3971ProfsTer?
XM_005250801.5:c.11910_11916del (VPS13B)	XP_005250858.1:p.Cys3971ProfsTer?
XM_011516848.2:c.11907_11913del (VPS13B)	XP_011515150.1:p.Cys3970ProfsTer?
XM_011516849.2:c.11832_11838del (VPS13B)	XP_011515151.1:p.Cys3945ProfsTer?
XM_011516850.2:c.11532_11538del (VPS13B)	XP_011515152.1:p.Cys3845ProfsTer?
XM_011516851.2:c.8796_8802del (VPS13B)	XP_011515153.1:p.Cys2933ProfsTer?
XM_011516852.2:c.8796_8802del (VPS13B)	XP_011515154.1:p.Cys2933ProfsTer?
XM_011516854.2:c.7689_7695del (VPS13B)	XP_011515156.1:p.Cys2564ProfsTer?
XM_017013109.1:c.11715_11721del (VPS13B)	XP_016868598.1:p.Cys3906ProfsTer?
XM_017013111.1:c.8796_8802del (VPS13B)	XP_016868600.1:p.Cys2933ProfsTer?
XM_017013112.1:c.7467_7473del (VPS13B)	XP_016868601.1:p.Cys2490ProfsTer?
XM_024447074.1:c.10695_10701del (VPS13B)	XP_024302842.1:p.Cys3566ProfsTer?
NM_017890.5:c.11910_11916del (VPS13B) MANE Plus Clinical	NP_060360.3:p.Cys3971ProfsTer?
NM_152564.5:c.11835_11841del (VPS13B) MANE Select	NP_689777.3:p.Cys3946ProfsTer?