Canonical Allele Identifier: CA913128148

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100880634dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868406dup , CM000670.2:g.99868406dup	GRCh38
NC_000008.10:g.100880634dup , CM000670.1:g.100880634dup	GRCh37
NC_000008.9:g.100949810dup	NCBI36
NG_007098.2:g.860141dup , LRG_351:g.860141dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*502dup	ENSP00000507923.1:n.*502dup
ENST00000682358.1:n.11478dup
ENST00000683334.1:c.*7090dup	ENSP00000507369.1:n.*7090dup
ENST00000357162.7:c.11333dup MANE Select	ENSP00000349685.2:p.Met3778IlefsTer13
ENST00000358544.7:c.11408dup MANE Plus Clinical	ENSP00000351346.2:p.Met3803IlefsTer13
ENST00000357162.6:c.11333dup	ENSP00000349685.2:p.Met3778IlefsTer13
ENST00000358544.6:c.11408dup	ENSP00000351346.2:p.Met3803IlefsTer13
ENST00000493587.1:n.350dup
NM_017890.4:c.11408dup , LRG_351t1:c.11408dup	NP_060360.3:p.Met3803IlefsTer13
NM_152564.4:c.11333dup , LRG_351t2:c.11333dup	NP_689777.3:p.Met3778IlefsTer13
XM_005250800.2:c.11408dup	XP_005250857.1:p.Met3803IlefsTer13
XM_005250801.3:c.11408dup	XP_005250858.1:p.Met3803IlefsTer13
XM_011516848.1:c.11405dup	XP_011515150.1:p.Met3802IlefsTer13
XM_011516849.1:c.11330dup	XP_011515151.1:p.Met3777IlefsTer13
XM_011516850.1:c.11030dup	XP_011515152.1:p.Met3677IlefsTer13
XM_011516851.1:c.8294dup	XP_011515153.1:p.Met2765IlefsTer13
XM_011516852.1:c.8294dup	XP_011515154.1:p.Met2765IlefsTer13
XM_011516854.1:c.7187dup	XP_011515156.1:p.Met2396IlefsTer13
XM_005250800.3:c.11408dup	XP_005250857.1:p.Met3803IlefsTer13
XM_005250801.5:c.11408dup	XP_005250858.1:p.Met3803IlefsTer13
XM_011516848.2:c.11405dup	XP_011515150.1:p.Met3802IlefsTer13
XM_011516849.2:c.11330dup	XP_011515151.1:p.Met3777IlefsTer13
XM_011516850.2:c.11030dup	XP_011515152.1:p.Met3677IlefsTer13
XM_011516851.2:c.8294dup	XP_011515153.1:p.Met2765IlefsTer13
XM_011516852.2:c.8294dup	XP_011515154.1:p.Met2765IlefsTer13
XM_011516854.2:c.7187dup	XP_011515156.1:p.Met2396IlefsTer13
XM_017013109.1:c.11213dup	XP_016868598.1:p.Met3738IlefsTer13
XM_017013111.1:c.8294dup	XP_016868600.1:p.Met2765IlefsTer13
XM_017013112.1:c.6965dup	XP_016868601.1:p.Met2322IlefsTer13
XM_024447074.1:c.10193dup	XP_024302842.1:p.Met3398IlefsTer13
NM_017890.5:c.11408dup MANE Plus Clinical	NP_060360.3:p.Met3803IlefsTer13
NM_152564.5:c.11333dup MANE Select	NP_689777.3:p.Met3778IlefsTer13