Canonical Allele Identifier: CA913128137

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100789067dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776839dup , CM000670.2:g.99776839dup	GRCh38
NC_000008.10:g.100789067dup , CM000670.1:g.100789067dup	GRCh37
NC_000008.9:g.100858243dup	NCBI36
NG_007098.2:g.768574dup , LRG_351:g.768574dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7387dup	ENSP00000507923.1:p.Ala2463GlyfsTer6
ENST00000682358.1:n.7457dup
ENST00000683334.1:c.*3069dup	ENSP00000507369.1:n.*3069dup
ENST00000357162.7:c.7312dup MANE Select	ENSP00000349685.2:p.Ala2438GlyfsTer6
ENST00000358544.7:c.7387dup MANE Plus Clinical	ENSP00000351346.2:p.Ala2463GlyfsTer6
ENST00000357162.6:c.7312dup	ENSP00000349685.2:p.Ala2438GlyfsTer6
ENST00000358544.6:c.7387dup	ENSP00000351346.2:p.Ala2463GlyfsTer6
ENST00000518569.1:n.378-1843dup
NM_017890.4:c.7387dup , LRG_351t1:c.7387dup	NP_060360.3:p.Ala2463GlyfsTer6
NM_152564.4:c.7312dup , LRG_351t2:c.7312dup	NP_689777.3:p.Ala2438GlyfsTer6
XM_005250800.2:c.7387dup	XP_005250857.1:p.Ala2463GlyfsTer6
XM_005250801.3:c.7387dup	XP_005250858.1:p.Ala2463GlyfsTer6
XM_011516848.1:c.7384dup	XP_011515150.1:p.Ala2462GlyfsTer6
XM_011516849.1:c.7309dup	XP_011515151.1:p.Ala2437GlyfsTer6
XM_011516850.1:c.7009dup	XP_011515152.1:p.Ala2337GlyfsTer6
XM_011516851.1:c.4273dup	XP_011515153.1:p.Ala1425GlyfsTer6
XM_011516852.1:c.4273dup	XP_011515154.1:p.Ala1425GlyfsTer6
XM_011516853.1:c.7387dup	XP_011515155.1:p.Ala2463GlyfsTer6
XM_011516854.1:c.3166dup	XP_011515156.1:p.Ala1056GlyfsTer6
XR_928446.1:n.1830+5639dup
XM_005250800.3:c.7387dup	XP_005250857.1:p.Ala2463GlyfsTer6
XM_005250801.5:c.7387dup	XP_005250858.1:p.Ala2463GlyfsTer6
XM_011516848.2:c.7384dup	XP_011515150.1:p.Ala2462GlyfsTer6
XM_011516849.2:c.7309dup	XP_011515151.1:p.Ala2437GlyfsTer6
XM_011516850.2:c.7009dup	XP_011515152.1:p.Ala2337GlyfsTer6
XM_011516851.2:c.4273dup	XP_011515153.1:p.Ala1425GlyfsTer6
XM_011516852.2:c.4273dup	XP_011515154.1:p.Ala1425GlyfsTer6
XM_011516853.2:c.7387dup	XP_011515155.1:p.Ala2463GlyfsTer6
XM_011516854.2:c.3166dup	XP_011515156.1:p.Ala1056GlyfsTer6
XM_017013109.1:c.7192dup	XP_016868598.1:p.Ala2398GlyfsTer6
XM_017013111.1:c.4273dup	XP_016868600.1:p.Ala1425GlyfsTer6
XM_017013112.1:c.2944dup	XP_016868601.1:p.Ala982GlyfsTer6
XM_024447074.1:c.6172dup	XP_024302842.1:p.Ala2058GlyfsTer6
NM_017890.5:c.7387dup MANE Plus Clinical	NP_060360.3:p.Ala2463GlyfsTer6
NM_152564.5:c.7312dup MANE Select	NP_689777.3:p.Ala2438GlyfsTer6