Canonical Allele Identifier: CA913128155

Gene: VPS13B COX6C

Linked Data

• MyVariant Identifiers: chr8:g.100887682_100887685del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875454_99875457del , CM000670.2:g.99875454_99875457del	GRCh38
NC_000008.10:g.100887682_100887685del , CM000670.1:g.100887682_100887685del	GRCh37
NC_000008.9:g.100956858_100956861del	NCBI36
NG_007098.2:g.867189_867192del , LRG_351:g.867189_867192del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1511_*1514del (VPS13B)	ENSP00000507923.1:n.*1511_*1514del
ENST00000682358.1:n.12487_12490del (VPS13B)
ENST00000683334.1:c.*7539_*7542del (VPS13B)	ENSP00000507369.1:n.*7539_*7542del
ENST00000357162.7:c.11782_11785del (VPS13B) MANE Select	ENSP00000349685.2:p.Tyr3928ThrfsTer?
ENST00000358544.7:c.11857_11860del (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Tyr3953ThrfsTer?
ENST00000357162.6:c.11782_11785del (VPS13B)	ENSP00000349685.2:p.Tyr3928ThrfsTer?
ENST00000358544.6:c.11857_11860del (VPS13B)	ENSP00000351346.2:p.Tyr3953ThrfsTer?
ENST00000493587.1:n.1359_1362del (VPS13B)
ENST00000520517.5:c.*142-365_*142-362del (COX6C)	ENSP00000429991.1:n.*142-365_*142-362del
ENST00000522934.5:c.*142-2164_*142-2161del (COX6C)	ENSP00000428702.1:n.*142-2164_*142-2161del
NM_017890.4:c.11857_11860del , LRG_351t1:c.11857_11860del (VPS13B)	NP_060360.3:p.Tyr3953ThrfsTer?
NM_152564.4:c.11782_11785del , LRG_351t2:c.11782_11785del (VPS13B)	NP_689777.3:p.Tyr3928ThrfsTer?
XM_005250800.2:c.11857_11860del (VPS13B)	XP_005250857.1:p.Tyr3953ThrfsTer?
XM_005250801.3:c.11857_11860del (VPS13B)	XP_005250858.1:p.Tyr3953ThrfsTer?
XM_011516848.1:c.11854_11857del (VPS13B)	XP_011515150.1:p.Tyr3952ThrfsTer?
XM_011516849.1:c.11779_11782del (VPS13B)	XP_011515151.1:p.Tyr3927ThrfsTer?
XM_011516850.1:c.11479_11482del (VPS13B)	XP_011515152.1:p.Tyr3827ThrfsTer?
XM_011516851.1:c.8743_8746del (VPS13B)	XP_011515153.1:p.Tyr2915ThrfsTer?
XM_011516852.1:c.8743_8746del (VPS13B)	XP_011515154.1:p.Tyr2915ThrfsTer?
XM_011516854.1:c.7636_7639del (VPS13B)	XP_011515156.1:p.Tyr2546ThrfsTer?
XM_005250800.3:c.11857_11860del (VPS13B)	XP_005250857.1:p.Tyr3953ThrfsTer?
XM_005250801.5:c.11857_11860del (VPS13B)	XP_005250858.1:p.Tyr3953ThrfsTer?
XM_011516848.2:c.11854_11857del (VPS13B)	XP_011515150.1:p.Tyr3952ThrfsTer?
XM_011516849.2:c.11779_11782del (VPS13B)	XP_011515151.1:p.Tyr3927ThrfsTer?
XM_011516850.2:c.11479_11482del (VPS13B)	XP_011515152.1:p.Tyr3827ThrfsTer?
XM_011516851.2:c.8743_8746del (VPS13B)	XP_011515153.1:p.Tyr2915ThrfsTer?
XM_011516852.2:c.8743_8746del (VPS13B)	XP_011515154.1:p.Tyr2915ThrfsTer?
XM_011516854.2:c.7636_7639del (VPS13B)	XP_011515156.1:p.Tyr2546ThrfsTer?
XM_017013109.1:c.11662_11665del (VPS13B)	XP_016868598.1:p.Tyr3888ThrfsTer?
XM_017013111.1:c.8743_8746del (VPS13B)	XP_016868600.1:p.Tyr2915ThrfsTer?
XM_017013112.1:c.7414_7417del (VPS13B)	XP_016868601.1:p.Tyr2472ThrfsTer?
XM_024447074.1:c.10642_10645del (VPS13B)	XP_024302842.1:p.Tyr3548ThrfsTer?
NM_017890.5:c.11857_11860del (VPS13B) MANE Plus Clinical	NP_060360.3:p.Tyr3953ThrfsTer?
NM_152564.5:c.11782_11785del (VPS13B) MANE Select	NP_689777.3:p.Tyr3928ThrfsTer?