Canonical Allele Identifier: CA913128149

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100880659_100880660del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868431_99868432del , CM000670.2:g.99868431_99868432del	GRCh38
NC_000008.10:g.100880659_100880660del , CM000670.1:g.100880659_100880660del	GRCh37
NC_000008.9:g.100949835_100949836del	NCBI36
NG_007098.2:g.860166_860167del , LRG_351:g.860166_860167del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*527_*528del	ENSP00000507923.1:n.*527_*528del
ENST00000682358.1:n.11503_11504del
ENST00000683334.1:c.*7115_*7116del	ENSP00000507369.1:n.*7115_*7116del
ENST00000357162.7:c.11358_11359del MANE Select	ENSP00000349685.2:p.Gly3787SerfsTer3
ENST00000358544.7:c.11433_11434del MANE Plus Clinical	ENSP00000351346.2:p.Gly3812SerfsTer3
ENST00000357162.6:c.11358_11359del	ENSP00000349685.2:p.Gly3787SerfsTer3
ENST00000358544.6:c.11433_11434del	ENSP00000351346.2:p.Gly3812SerfsTer3
ENST00000493587.1:n.375_376del
NM_017890.4:c.11433_11434del , LRG_351t1:c.11433_11434del	NP_060360.3:p.Gly3812SerfsTer3
NM_152564.4:c.11358_11359del , LRG_351t2:c.11358_11359del	NP_689777.3:p.Gly3787SerfsTer3
XM_005250800.2:c.11433_11434del	XP_005250857.1:p.Gly3812SerfsTer3
XM_005250801.3:c.11433_11434del	XP_005250858.1:p.Gly3812SerfsTer3
XM_011516848.1:c.11430_11431del	XP_011515150.1:p.Gly3811SerfsTer3
XM_011516849.1:c.11355_11356del	XP_011515151.1:p.Gly3786SerfsTer3
XM_011516850.1:c.11055_11056del	XP_011515152.1:p.Gly3686SerfsTer3
XM_011516851.1:c.8319_8320del	XP_011515153.1:p.Gly2774SerfsTer3
XM_011516852.1:c.8319_8320del	XP_011515154.1:p.Gly2774SerfsTer3
XM_011516854.1:c.7212_7213del	XP_011515156.1:p.Gly2405SerfsTer3
XM_005250800.3:c.11433_11434del	XP_005250857.1:p.Gly3812SerfsTer3
XM_005250801.5:c.11433_11434del	XP_005250858.1:p.Gly3812SerfsTer3
XM_011516848.2:c.11430_11431del	XP_011515150.1:p.Gly3811SerfsTer3
XM_011516849.2:c.11355_11356del	XP_011515151.1:p.Gly3786SerfsTer3
XM_011516850.2:c.11055_11056del	XP_011515152.1:p.Gly3686SerfsTer3
XM_011516851.2:c.8319_8320del	XP_011515153.1:p.Gly2774SerfsTer3
XM_011516852.2:c.8319_8320del	XP_011515154.1:p.Gly2774SerfsTer3
XM_011516854.2:c.7212_7213del	XP_011515156.1:p.Gly2405SerfsTer3
XM_017013109.1:c.11238_11239del	XP_016868598.1:p.Gly3747SerfsTer3
XM_017013111.1:c.8319_8320del	XP_016868600.1:p.Gly2774SerfsTer3
XM_017013112.1:c.6990_6991del	XP_016868601.1:p.Gly2331SerfsTer3
XM_024447074.1:c.10218_10219del	XP_024302842.1:p.Gly3407SerfsTer3
NM_017890.5:c.11433_11434del MANE Plus Clinical	NP_060360.3:p.Gly3812SerfsTer3
NM_152564.5:c.11358_11359del MANE Select	NP_689777.3:p.Gly3787SerfsTer3