Canonical Allele Identifier: CA182328541

Gene: VPS13B

Linked Data

• dbSNP Id: rs984447004
• MyVariant Identifiers: chr8:g.100880519_100880520insC (hg19) ; chr8:g.99868291_99868292insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868292dup , CM000670.2:g.99868292dup	GRCh38
NC_000008.10:g.100880520dup , CM000670.1:g.100880520dup	GRCh37
NC_000008.9:g.100949696dup	NCBI36
NG_007098.2:g.860027dup , LRG_351:g.860027dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*388dup	ENSP00000507923.1:n.*388dup
ENST00000682358.1:n.11364dup
ENST00000683334.1:c.*6976dup	ENSP00000507369.1:n.*6976dup
ENST00000357162.7:c.11219dup MANE Select	ENSP00000349685.2:p.Ile3741AsnfsTer6
ENST00000358544.7:c.11294dup MANE Plus Clinical	ENSP00000351346.2:p.Ile3766AsnfsTer6
ENST00000357162.6:c.11219dup	ENSP00000349685.2:p.Ile3741AsnfsTer6
ENST00000358544.6:c.11294dup	ENSP00000351346.2:p.Ile3766AsnfsTer6
ENST00000493587.1:n.236dup
NM_017890.4:c.11294dup , LRG_351t1:c.11294dup	NP_060360.3:p.Ile3766AsnfsTer6
NM_152564.4:c.11219dup , LRG_351t2:c.11219dup	NP_689777.3:p.Ile3741AsnfsTer6
XM_005250800.2:c.11294dup	XP_005250857.1:p.Ile3766AsnfsTer6
XM_005250801.3:c.11294dup	XP_005250858.1:p.Ile3766AsnfsTer6
XM_011516848.1:c.11291dup	XP_011515150.1:p.Ile3765AsnfsTer6
XM_011516849.1:c.11216dup	XP_011515151.1:p.Ile3740AsnfsTer6
XM_011516850.1:c.10916dup	XP_011515152.1:p.Ile3640AsnfsTer6
XM_011516851.1:c.8180dup	XP_011515153.1:p.Ile2728AsnfsTer6
XM_011516852.1:c.8180dup	XP_011515154.1:p.Ile2728AsnfsTer6
XM_011516854.1:c.7073dup	XP_011515156.1:p.Ile2359AsnfsTer6
XM_005250800.3:c.11294dup	XP_005250857.1:p.Ile3766AsnfsTer6
XM_005250801.5:c.11294dup	XP_005250858.1:p.Ile3766AsnfsTer6
XM_011516848.2:c.11291dup	XP_011515150.1:p.Ile3765AsnfsTer6
XM_011516849.2:c.11216dup	XP_011515151.1:p.Ile3740AsnfsTer6
XM_011516850.2:c.10916dup	XP_011515152.1:p.Ile3640AsnfsTer6
XM_011516851.2:c.8180dup	XP_011515153.1:p.Ile2728AsnfsTer6
XM_011516852.2:c.8180dup	XP_011515154.1:p.Ile2728AsnfsTer6
XM_011516854.2:c.7073dup	XP_011515156.1:p.Ile2359AsnfsTer6
XM_017013109.1:c.11099dup	XP_016868598.1:p.Ile3701AsnfsTer6
XM_017013111.1:c.8180dup	XP_016868600.1:p.Ile2728AsnfsTer6
XM_017013112.1:c.6851dup	XP_016868601.1:p.Ile2285AsnfsTer6
XM_024447074.1:c.10079dup	XP_024302842.1:p.Ile3361AsnfsTer6
NM_017890.5:c.11294dup MANE Plus Clinical	NP_060360.3:p.Ile3766AsnfsTer6
NM_152564.5:c.11219dup MANE Select	NP_689777.3:p.Ile3741AsnfsTer6