Canonical Allele Identifier: CA2688070508

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99832758-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99832760del , CM000670.2:g.99832760del	GRCh38
NC_000008.10:g.100844988del , CM000670.1:g.100844988del	GRCh37
NC_000008.9:g.100914164del	NCBI36
NG_007098.2:g.824495del , LRG_351:g.824495del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.9689+108del	ENSP00000507923.1:n.9689+108del
ENST00000682358.1:n.9759+108del
ENST00000683334.1:c.*5371+108del	ENSP00000507369.1:n.*5371+108del
ENST00000357162.7:c.9614+108del MANE Select	ENSP00000349685.2:n.9614+108del
ENST00000358544.7:c.9689+108del MANE Plus Clinical	ENSP00000351346.2:n.9689+108del
ENST00000357162.6:c.9614+108del	ENSP00000349685.2:n.9614+108del
ENST00000358544.6:c.9689+108del	ENSP00000351346.2:n.9689+108del
NM_017890.4:c.9689+108del , LRG_351t1:c.9689+108del	NP_060360.3:n.9689+108del
NM_152564.4:c.9614+108del , LRG_351t2:c.9614+108del	NP_689777.3:n.9614+108del
XM_005250800.2:c.9689+108del	XP_005250857.1:n.9689+108del
XM_005250801.3:c.9689+108del	XP_005250858.1:n.9689+108del
XM_011516848.1:c.9686+108del	XP_011515150.1:n.9686+108del
XM_011516849.1:c.9611+108del	XP_011515151.1:n.9611+108del
XM_011516850.1:c.9311+108del	XP_011515152.1:n.9311+108del
XM_011516851.1:c.6575+108del	XP_011515153.1:n.6575+108del
XM_011516852.1:c.6575+108del	XP_011515154.1:n.6575+108del
XM_011516854.1:c.5468+108del	XP_011515156.1:n.5468+108del
XM_005250800.3:c.9689+108del	XP_005250857.1:n.9689+108del
XM_005250801.5:c.9689+108del	XP_005250858.1:n.9689+108del
XM_011516848.2:c.9686+108del	XP_011515150.1:n.9686+108del
XM_011516849.2:c.9611+108del	XP_011515151.1:n.9611+108del
XM_011516850.2:c.9311+108del	XP_011515152.1:n.9311+108del
XM_011516851.2:c.6575+108del	XP_011515153.1:n.6575+108del
XM_011516852.2:c.6575+108del	XP_011515154.1:n.6575+108del
XM_011516854.2:c.5468+108del	XP_011515156.1:n.5468+108del
XM_017013109.1:c.9494+108del	XP_016868598.1:n.9494+108del
XM_017013111.1:c.6575+108del	XP_016868600.1:n.6575+108del
XM_017013112.1:c.5246+108del	XP_016868601.1:n.5246+108del
XM_024447074.1:c.8474+108del	XP_024302842.1:n.8474+108del
NM_017890.5:c.9689+108del MANE Plus Clinical	NP_060360.3:n.9689+108del
NM_152564.5:c.9614+108del MANE Select	NP_689777.3:n.9614+108del