Canonical Allele Identifier: CA2688069987

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99819288-AATGGACTCTAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99819289_99819299del , CM000670.2:g.99819289_99819299del	GRCh38
NC_000008.10:g.100831517_100831527del , CM000670.1:g.100831517_100831527del	GRCh37
NC_000008.9:g.100900693_100900703del	NCBI36
NG_007098.2:g.811024_811034del , LRG_351:g.811024_811034del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.8697-123_8697-113del	ENSP00000507923.1:n.8697-123_8697-113del
ENST00000682358.1:n.8767-123_8767-113del
ENST00000683334.1:c.*4379-123_*4379-113del	ENSP00000507369.1:n.*4379-123_*4379-113del
ENST00000357162.7:c.8622-123_8622-113del MANE Select	ENSP00000349685.2:n.8622-123_8622-113del
ENST00000358544.7:c.8697-123_8697-113del MANE Plus Clinical	ENSP00000351346.2:n.8697-123_8697-113del
ENST00000357162.6:c.8622-123_8622-113del	ENSP00000349685.2:n.8622-123_8622-113del
ENST00000358544.6:c.8697-123_8697-113del	ENSP00000351346.2:n.8697-123_8697-113del
NM_017890.4:c.8697-123_8697-113del , LRG_351t1:c.8697-123_8697-113del	NP_060360.3:n.8697-123_8697-113del
NM_152564.4:c.8622-123_8622-113del , LRG_351t2:c.8622-123_8622-113del	NP_689777.3:n.8622-123_8622-113del
XM_005250800.2:c.8697-123_8697-113del	XP_005250857.1:n.8697-123_8697-113del
XM_005250801.3:c.8697-123_8697-113del	XP_005250858.1:n.8697-123_8697-113del
XM_011516848.1:c.8694-123_8694-113del	XP_011515150.1:n.8694-123_8694-113del
XM_011516849.1:c.8619-123_8619-113del	XP_011515151.1:n.8619-123_8619-113del
XM_011516850.1:c.8319-123_8319-113del	XP_011515152.1:n.8319-123_8319-113del
XM_011516851.1:c.5583-123_5583-113del	XP_011515153.1:n.5583-123_5583-113del
XM_011516852.1:c.5583-123_5583-113del	XP_011515154.1:n.5583-123_5583-113del
XM_011516854.1:c.4476-123_4476-113del	XP_011515156.1:n.4476-123_4476-113del
XM_005250800.3:c.8697-123_8697-113del	XP_005250857.1:n.8697-123_8697-113del
XM_005250801.5:c.8697-123_8697-113del	XP_005250858.1:n.8697-123_8697-113del
XM_011516848.2:c.8694-123_8694-113del	XP_011515150.1:n.8694-123_8694-113del
XM_011516849.2:c.8619-123_8619-113del	XP_011515151.1:n.8619-123_8619-113del
XM_011516850.2:c.8319-123_8319-113del	XP_011515152.1:n.8319-123_8319-113del
XM_011516851.2:c.5583-123_5583-113del	XP_011515153.1:n.5583-123_5583-113del
XM_011516852.2:c.5583-123_5583-113del	XP_011515154.1:n.5583-123_5583-113del
XM_011516854.2:c.4476-123_4476-113del	XP_011515156.1:n.4476-123_4476-113del
XM_017013109.1:c.8502-123_8502-113del	XP_016868598.1:n.8502-123_8502-113del
XM_017013111.1:c.5583-123_5583-113del	XP_016868600.1:n.5583-123_5583-113del
XM_017013112.1:c.4254-123_4254-113del	XP_016868601.1:n.4254-123_4254-113del
XM_024447074.1:c.7482-123_7482-113del	XP_024302842.1:n.7482-123_7482-113del
NM_017890.5:c.8697-123_8697-113del MANE Plus Clinical	NP_060360.3:n.8697-123_8697-113del
NM_152564.5:c.8622-123_8622-113del MANE Select	NP_689777.3:n.8622-123_8622-113del