Canonical Allele Identifier: CA2688068072

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99776771-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776771A>T , CM000670.2:g.99776771A>T	GRCh38
NC_000008.10:g.100788999A>T , CM000670.1:g.100788999A>T	GRCh37
NC_000008.9:g.100858175A>T	NCBI36
NG_007098.2:g.768506A>T , LRG_351:g.768506A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.7323-4A>T	ENSP00000507923.1:n.7323-4A>T
ENST00000682358.1:n.7393-4A>T
ENST00000683334.1:c.*3005-4A>T	ENSP00000507369.1:n.*3005-4A>T
ENST00000357162.7:c.7248-4A>T MANE Select	ENSP00000349685.2:n.7248-4A>T
ENST00000358544.7:c.7323-4A>T MANE Plus Clinical	ENSP00000351346.2:n.7323-4A>T
ENST00000357162.6:c.7248-4A>T	ENSP00000349685.2:n.7248-4A>T
ENST00000358544.6:c.7323-4A>T	ENSP00000351346.2:n.7323-4A>T
ENST00000518569.1:n.378-1911A>T
NM_017890.4:c.7323-4A>T , LRG_351t1:c.7323-4A>T	NP_060360.3:n.7323-4A>T
NM_152564.4:c.7248-4A>T , LRG_351t2:c.7248-4A>T	NP_689777.3:n.7248-4A>T
XM_005250800.2:c.7323-4A>T	XP_005250857.1:n.7323-4A>T
XM_005250801.3:c.7323-4A>T	XP_005250858.1:n.7323-4A>T
XM_011516848.1:c.7320-4A>T	XP_011515150.1:n.7320-4A>T
XM_011516849.1:c.7245-4A>T	XP_011515151.1:n.7245-4A>T
XM_011516850.1:c.6945-4A>T	XP_011515152.1:n.6945-4A>T
XM_011516851.1:c.4209-4A>T	XP_011515153.1:n.4209-4A>T
XM_011516852.1:c.4209-4A>T	XP_011515154.1:n.4209-4A>T
XM_011516853.1:c.7323-4A>T	XP_011515155.1:n.7323-4A>T
XM_011516854.1:c.3102-4A>T	XP_011515156.1:n.3102-4A>T
XR_928446.1:n.1830+5707T>A
XM_005250800.3:c.7323-4A>T	XP_005250857.1:n.7323-4A>T
XM_005250801.5:c.7323-4A>T	XP_005250858.1:n.7323-4A>T
XM_011516848.2:c.7320-4A>T	XP_011515150.1:n.7320-4A>T
XM_011516849.2:c.7245-4A>T	XP_011515151.1:n.7245-4A>T
XM_011516850.2:c.6945-4A>T	XP_011515152.1:n.6945-4A>T
XM_011516851.2:c.4209-4A>T	XP_011515153.1:n.4209-4A>T
XM_011516852.2:c.4209-4A>T	XP_011515154.1:n.4209-4A>T
XM_011516853.2:c.7323-4A>T	XP_011515155.1:n.7323-4A>T
XM_011516854.2:c.3102-4A>T	XP_011515156.1:n.3102-4A>T
XM_017013109.1:c.7128-4A>T	XP_016868598.1:n.7128-4A>T
XM_017013111.1:c.4209-4A>T	XP_016868600.1:n.4209-4A>T
XM_017013112.1:c.2880-4A>T	XP_016868601.1:n.2880-4A>T
XM_024447074.1:c.6108-4A>T	XP_024302842.1:n.6108-4A>T
NM_017890.5:c.7323-4A>T MANE Plus Clinical	NP_060360.3:n.7323-4A>T
NM_152564.5:c.7248-4A>T MANE Select	NP_689777.3:n.7248-4A>T