Canonical Allele Identifier: CA2688070549

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99832804-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99832804C>A , CM000670.2:g.99832804C>A	GRCh38
NC_000008.10:g.100845032C>A , CM000670.1:g.100845032C>A	GRCh37
NC_000008.9:g.100914208C>A	NCBI36
NG_007098.2:g.824539C>A , LRG_351:g.824539C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.9689+152C>A	ENSP00000507923.1:n.9689+152C>A
ENST00000682358.1:n.9759+152C>A
ENST00000683334.1:c.*5371+152C>A	ENSP00000507369.1:n.*5371+152C>A
ENST00000357162.7:c.9614+152C>A MANE Select	ENSP00000349685.2:n.9614+152C>A
ENST00000358544.7:c.9689+152C>A MANE Plus Clinical	ENSP00000351346.2:n.9689+152C>A
ENST00000357162.6:c.9614+152C>A	ENSP00000349685.2:n.9614+152C>A
ENST00000358544.6:c.9689+152C>A	ENSP00000351346.2:n.9689+152C>A
NM_017890.4:c.9689+152C>A , LRG_351t1:c.9689+152C>A	NP_060360.3:n.9689+152C>A
NM_152564.4:c.9614+152C>A , LRG_351t2:c.9614+152C>A	NP_689777.3:n.9614+152C>A
XM_005250800.2:c.9689+152C>A	XP_005250857.1:n.9689+152C>A
XM_005250801.3:c.9689+152C>A	XP_005250858.1:n.9689+152C>A
XM_011516848.1:c.9686+152C>A	XP_011515150.1:n.9686+152C>A
XM_011516849.1:c.9611+152C>A	XP_011515151.1:n.9611+152C>A
XM_011516850.1:c.9311+152C>A	XP_011515152.1:n.9311+152C>A
XM_011516851.1:c.6575+152C>A	XP_011515153.1:n.6575+152C>A
XM_011516852.1:c.6575+152C>A	XP_011515154.1:n.6575+152C>A
XM_011516854.1:c.5468+152C>A	XP_011515156.1:n.5468+152C>A
XM_005250800.3:c.9689+152C>A	XP_005250857.1:n.9689+152C>A
XM_005250801.5:c.9689+152C>A	XP_005250858.1:n.9689+152C>A
XM_011516848.2:c.9686+152C>A	XP_011515150.1:n.9686+152C>A
XM_011516849.2:c.9611+152C>A	XP_011515151.1:n.9611+152C>A
XM_011516850.2:c.9311+152C>A	XP_011515152.1:n.9311+152C>A
XM_011516851.2:c.6575+152C>A	XP_011515153.1:n.6575+152C>A
XM_011516852.2:c.6575+152C>A	XP_011515154.1:n.6575+152C>A
XM_011516854.2:c.5468+152C>A	XP_011515156.1:n.5468+152C>A
XM_017013109.1:c.9494+152C>A	XP_016868598.1:n.9494+152C>A
XM_017013111.1:c.6575+152C>A	XP_016868600.1:n.6575+152C>A
XM_017013112.1:c.5246+152C>A	XP_016868601.1:n.5246+152C>A
XM_024447074.1:c.8474+152C>A	XP_024302842.1:n.8474+152C>A
NM_017890.5:c.9689+152C>A MANE Plus Clinical	NP_060360.3:n.9689+152C>A
NM_152564.5:c.9614+152C>A MANE Select	NP_689777.3:n.9614+152C>A