Canonical Allele Identifier: CA263993

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99848834_99848835del , CM000670.2:g.99848834_99848835del	GRCh38
NC_000008.10:g.100861062_100861063del , CM000670.1:g.100861062_100861063del	GRCh37
NC_000008.9:g.100930238_100930239del	NCBI36
NG_007098.2:g.840569_840570del , LRG_351:g.840569_840570del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.10076_10077del	ENSP00000507923.1:p.Thr3359SerfsTer29
ENST00000682358.1:n.10146_10147del
ENST00000683334.1:c.*5758_*5759del	ENSP00000507369.1:n.*5758_*5759del
ENST00000357162.7:c.10001_10002del MANE Select	ENSP00000349685.2:p.Thr3334SerfsTer29
ENST00000358544.7:c.10076_10077del MANE Plus Clinical	ENSP00000351346.2:p.Thr3359SerfsTer29
ENST00000357162.6:c.10001_10002del	ENSP00000349685.2:p.Thr3334SerfsTer29
ENST00000358544.6:c.10076_10077del	ENSP00000351346.2:p.Thr3359SerfsTer29
NM_017890.4:c.10076_10077del , LRG_351t1:c.10076_10077del	NP_060360.3:p.Thr3359SerfsTer29
NM_152564.4:c.10001_10002del , LRG_351t2:c.10001_10002del	NP_689777.3:p.Thr3334SerfsTer29
XM_005250800.2:c.10076_10077del	XP_005250857.1:p.Thr3359SerfsTer29
XM_005250801.3:c.10076_10077del	XP_005250858.1:p.Thr3359SerfsTer29
XM_011516848.1:c.10073_10074del	XP_011515150.1:p.Thr3358SerfsTer29
XM_011516849.1:c.9998_9999del	XP_011515151.1:p.Thr3333SerfsTer29
XM_011516850.1:c.9698_9699del	XP_011515152.1:p.Thr3233SerfsTer29
XM_011516851.1:c.6962_6963del	XP_011515153.1:p.Thr2321SerfsTer29
XM_011516852.1:c.6962_6963del	XP_011515154.1:p.Thr2321SerfsTer29
XM_011516854.1:c.5855_5856del	XP_011515156.1:p.Thr1952SerfsTer29
XM_005250800.3:c.10076_10077del	XP_005250857.1:p.Thr3359SerfsTer29
XM_005250801.5:c.10076_10077del	XP_005250858.1:p.Thr3359SerfsTer29
XM_011516848.2:c.10073_10074del	XP_011515150.1:p.Thr3358SerfsTer29
XM_011516849.2:c.9998_9999del	XP_011515151.1:p.Thr3333SerfsTer29
XM_011516850.2:c.9698_9699del	XP_011515152.1:p.Thr3233SerfsTer29
XM_011516851.2:c.6962_6963del	XP_011515153.1:p.Thr2321SerfsTer29
XM_011516852.2:c.6962_6963del	XP_011515154.1:p.Thr2321SerfsTer29
XM_011516854.2:c.5855_5856del	XP_011515156.1:p.Thr1952SerfsTer29
XM_017013109.1:c.9881_9882del	XP_016868598.1:p.Thr3294SerfsTer29
XM_017013111.1:c.6962_6963del	XP_016868600.1:p.Thr2321SerfsTer29
XM_017013112.1:c.5633_5634del	XP_016868601.1:p.Thr1878SerfsTer29
XM_024447074.1:c.8861_8862del	XP_024302842.1:p.Thr2954SerfsTer29
NM_017890.5:c.10076_10077del MANE Plus Clinical	NP_060360.3:p.Thr3359SerfsTer29
NM_152564.5:c.10001_10002del MANE Select	NP_689777.3:p.Thr3334SerfsTer29