Canonical Allele Identifier: CA1805821003

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99642025_99642040delinsTTGACATATTTATTAC , CM000670.2:g.99642025_99642040delinsTTGACATATTTATTAC	GRCh38
NC_000008.10:g.100654253_100654268delinsTTGACATATTTATTAC , CM000670.1:g.100654253_100654268delinsTTGACATATTTATTAC	GRCh37
NC_000008.9:g.100723429_100723444delinsTTGACATATTTATTAC	NCBI36
NG_007098.2:g.633760_633775delinsTTGACATATTTATTAC , LRG_351:g.633760_633775delinsTTGACATATTTATTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.5510_5525delinsTTGACATATTTATTAC	ENSP00000507923.1:p.Phe1837=
ENST00000682358.1:n.5580_5595delinsTTGACATATTTATTAC
ENST00000683334.1:c.*1192_*1207delinsTTGACATATTTATTAC	ENSP00000507369.1:n.*1192_*1207delinsTTGACATATTTATTAC
ENST00000357162.7:c.5435_5450delinsTTGACATATTTATTAC MANE Select	ENSP00000349685.2:p.Phe1812=
ENST00000358544.7:c.5510_5525delinsTTGACATATTTATTAC MANE Plus Clinical	ENSP00000351346.2:p.Phe1837=
ENST00000357162.6:c.5435_5450delinsTTGACATATTTATTAC	ENSP00000349685.2:p.Phe1812=
ENST00000358544.6:c.5510_5525delinsTTGACATATTTATTAC	ENSP00000351346.2:p.Phe1837=
NM_017890.4:c.5510_5525delinsTTGACATATTTATTAC , LRG_351t1:c.5510_5525delinsTTGACATATTTATTAC	NP_060360.3:p.Phe1837=
NM_152564.4:c.5435_5450delinsTTGACATATTTATTAC , LRG_351t2:c.5435_5450delinsTTGACATATTTATTAC	NP_689777.3:p.Phe1812=
XM_005250800.2:c.5510_5525delinsTTGACATATTTATTAC	XP_005250857.1:p.Phe1837=
XM_005250801.3:c.5510_5525delinsTTGACATATTTATTAC	XP_005250858.1:p.Phe1837=
XM_011516848.1:c.5507_5522delinsTTGACATATTTATTAC	XP_011515150.1:p.Phe1836=
XM_011516849.1:c.5432_5447delinsTTGACATATTTATTAC	XP_011515151.1:p.Phe1811=
XM_011516850.1:c.5132_5147delinsTTGACATATTTATTAC	XP_011515152.1:p.Phe1711=
XM_011516851.1:c.2396_2411delinsTTGACATATTTATTAC	XP_011515153.1:p.Phe799=
XM_011516852.1:c.2396_2411delinsTTGACATATTTATTAC	XP_011515154.1:p.Phe799=
XM_011516853.1:c.5510_5525delinsTTGACATATTTATTAC	XP_011515155.1:p.Phe1837=
XM_011516854.1:c.1289_1304delinsTTGACATATTTATTAC	XP_011515156.1:p.Phe430=
XM_005250800.3:c.5510_5525delinsTTGACATATTTATTAC	XP_005250857.1:p.Phe1837=
XM_005250801.5:c.5510_5525delinsTTGACATATTTATTAC	XP_005250858.1:p.Phe1837=
XM_011516848.2:c.5507_5522delinsTTGACATATTTATTAC	XP_011515150.1:p.Phe1836=
XM_011516849.2:c.5432_5447delinsTTGACATATTTATTAC	XP_011515151.1:p.Phe1811=
XM_011516850.2:c.5132_5147delinsTTGACATATTTATTAC	XP_011515152.1:p.Phe1711=
XM_011516851.2:c.2396_2411delinsTTGACATATTTATTAC	XP_011515153.1:p.Phe799=
XM_011516852.2:c.2396_2411delinsTTGACATATTTATTAC	XP_011515154.1:p.Phe799=
XM_011516853.2:c.5510_5525delinsTTGACATATTTATTAC	XP_011515155.1:p.Phe1837=
XM_011516854.2:c.1289_1304delinsTTGACATATTTATTAC	XP_011515156.1:p.Phe430=
XM_017013109.1:c.5315_5330delinsTTGACATATTTATTAC	XP_016868598.1:p.Phe1772=
XM_017013111.1:c.2396_2411delinsTTGACATATTTATTAC	XP_016868600.1:p.Phe799=
XM_017013112.1:c.1067_1082delinsTTGACATATTTATTAC	XP_016868601.1:p.Phe356=
XM_024447074.1:c.4295_4310delinsTTGACATATTTATTAC	XP_024302842.1:p.Phe1432=
XR_001745482.2:n.5471_5486delinsTTGACATATTTATTAC
NM_017890.5:c.5510_5525delinsTTGACATATTTATTAC MANE Plus Clinical	NP_060360.3:p.Phe1837=
NM_152564.5:c.5435_5450delinsTTGACATATTTATTAC MANE Select	NP_689777.3:p.Phe1812=