Canonical Allele Identifier: CA1117126980

Gene: VPS13B

Linked Data

• gnomAD v3: 8-99819304-C-CAAAAAAAAAAA
• gnomAD v4: 8-99819304-C-CAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99819309_99819310insAAAAAAAAAAA , CM000670.2:g.99819309_99819310insAAAAAAAAAAA	GRCh38
NC_000008.10:g.100831537_100831538insAAAAAAAAAAA , CM000670.1:g.100831537_100831538insAAAAAAAAAAA	GRCh37
NC_000008.9:g.100900713_100900714insAAAAAAAAAAA	NCBI36
NG_007098.2:g.811044_811045insAAAAAAAAAAA , LRG_351:g.811044_811045insAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.8697-103_8697-102insAAAAAAAAAAA	ENSP00000507923.1:n.8697-103_8697-102insAAAAAAAAAAA
ENST00000682358.1:n.8767-103_8767-102insAAAAAAAAAAA
ENST00000683334.1:c.*4379-103_*4379-102insAAAAAAAAAAA	ENSP00000507369.1:n.*4379-103_*4379-102insAAAAAAAAAAA
ENST00000357162.7:c.8622-103_8622-102insAAAAAAAAAAA MANE Select	ENSP00000349685.2:n.8622-103_8622-102insAAAAAAAAAAA
ENST00000358544.7:c.8697-103_8697-102insAAAAAAAAAAA MANE Plus Clinical	ENSP00000351346.2:n.8697-103_8697-102insAAAAAAAAAAA
ENST00000357162.6:c.8622-103_8622-102insAAAAAAAAAAA	ENSP00000349685.2:n.8622-103_8622-102insAAAAAAAAAAA
ENST00000358544.6:c.8697-103_8697-102insAAAAAAAAAAA	ENSP00000351346.2:n.8697-103_8697-102insAAAAAAAAAAA
NM_017890.4:c.8697-103_8697-102insAAAAAAAAAAA , LRG_351t1:c.8697-103_8697-102insAAAAAAAAAAA	NP_060360.3:n.8697-103_8697-102insAAAAAAAAAAA
NM_152564.4:c.8622-103_8622-102insAAAAAAAAAAA , LRG_351t2:c.8622-103_8622-102insAAAAAAAAAAA	NP_689777.3:n.8622-103_8622-102insAAAAAAAAAAA
XM_005250800.2:c.8697-103_8697-102insAAAAAAAAAAA	XP_005250857.1:n.8697-103_8697-102insAAAAAAAAAAA
XM_005250801.3:c.8697-103_8697-102insAAAAAAAAAAA	XP_005250858.1:n.8697-103_8697-102insAAAAAAAAAAA
XM_011516848.1:c.8694-103_8694-102insAAAAAAAAAAA	XP_011515150.1:n.8694-103_8694-102insAAAAAAAAAAA
XM_011516849.1:c.8619-103_8619-102insAAAAAAAAAAA	XP_011515151.1:n.8619-103_8619-102insAAAAAAAAAAA
XM_011516850.1:c.8319-103_8319-102insAAAAAAAAAAA	XP_011515152.1:n.8319-103_8319-102insAAAAAAAAAAA
XM_011516851.1:c.5583-103_5583-102insAAAAAAAAAAA	XP_011515153.1:n.5583-103_5583-102insAAAAAAAAAAA
XM_011516852.1:c.5583-103_5583-102insAAAAAAAAAAA	XP_011515154.1:n.5583-103_5583-102insAAAAAAAAAAA
XM_011516854.1:c.4476-103_4476-102insAAAAAAAAAAA	XP_011515156.1:n.4476-103_4476-102insAAAAAAAAAAA
XM_005250800.3:c.8697-103_8697-102insAAAAAAAAAAA	XP_005250857.1:n.8697-103_8697-102insAAAAAAAAAAA
XM_005250801.5:c.8697-103_8697-102insAAAAAAAAAAA	XP_005250858.1:n.8697-103_8697-102insAAAAAAAAAAA
XM_011516848.2:c.8694-103_8694-102insAAAAAAAAAAA	XP_011515150.1:n.8694-103_8694-102insAAAAAAAAAAA
XM_011516849.2:c.8619-103_8619-102insAAAAAAAAAAA	XP_011515151.1:n.8619-103_8619-102insAAAAAAAAAAA
XM_011516850.2:c.8319-103_8319-102insAAAAAAAAAAA	XP_011515152.1:n.8319-103_8319-102insAAAAAAAAAAA
XM_011516851.2:c.5583-103_5583-102insAAAAAAAAAAA	XP_011515153.1:n.5583-103_5583-102insAAAAAAAAAAA
XM_011516852.2:c.5583-103_5583-102insAAAAAAAAAAA	XP_011515154.1:n.5583-103_5583-102insAAAAAAAAAAA
XM_011516854.2:c.4476-103_4476-102insAAAAAAAAAAA	XP_011515156.1:n.4476-103_4476-102insAAAAAAAAAAA
XM_017013109.1:c.8502-103_8502-102insAAAAAAAAAAA	XP_016868598.1:n.8502-103_8502-102insAAAAAAAAAAA
XM_017013111.1:c.5583-103_5583-102insAAAAAAAAAAA	XP_016868600.1:n.5583-103_5583-102insAAAAAAAAAAA
XM_017013112.1:c.4254-103_4254-102insAAAAAAAAAAA	XP_016868601.1:n.4254-103_4254-102insAAAAAAAAAAA
XM_024447074.1:c.7482-103_7482-102insAAAAAAAAAAA	XP_024302842.1:n.7482-103_7482-102insAAAAAAAAAAA
NM_017890.5:c.8697-103_8697-102insAAAAAAAAAAA MANE Plus Clinical	NP_060360.3:n.8697-103_8697-102insAAAAAAAAAAA
NM_152564.5:c.8622-103_8622-102insAAAAAAAAAAA MANE Select	NP_689777.3:n.8622-103_8622-102insAAAAAAAAAAA