Canonical Allele Identifier: CA1117126974

Gene: VPS13B

Linked Data

• dbSNP Id: rs1814227923
• gnomAD v3: 8-99819296-C-CTA
• gnomAD v4: 8-99819296-C-CTA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99819298_99819299dup , CM000670.2:g.99819298_99819299dup	GRCh38
NC_000008.10:g.100831526_100831527dup , CM000670.1:g.100831526_100831527dup	GRCh37
NC_000008.9:g.100900702_100900703dup	NCBI36
NG_007098.2:g.811033_811034dup , LRG_351:g.811033_811034dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.8697-114_8697-113dup	ENSP00000507923.1:n.8697-114_8697-113dup
ENST00000682358.1:n.8767-114_8767-113dup
ENST00000683334.1:c.*4379-114_*4379-113dup	ENSP00000507369.1:n.*4379-114_*4379-113dup
ENST00000357162.7:c.8622-114_8622-113dup MANE Select	ENSP00000349685.2:n.8622-114_8622-113dup
ENST00000358544.7:c.8697-114_8697-113dup MANE Plus Clinical	ENSP00000351346.2:n.8697-114_8697-113dup
ENST00000357162.6:c.8622-114_8622-113dup	ENSP00000349685.2:n.8622-114_8622-113dup
ENST00000358544.6:c.8697-114_8697-113dup	ENSP00000351346.2:n.8697-114_8697-113dup
NM_017890.4:c.8697-114_8697-113dup , LRG_351t1:c.8697-114_8697-113dup	NP_060360.3:n.8697-114_8697-113dup
NM_152564.4:c.8622-114_8622-113dup , LRG_351t2:c.8622-114_8622-113dup	NP_689777.3:n.8622-114_8622-113dup
XM_005250800.2:c.8697-114_8697-113dup	XP_005250857.1:n.8697-114_8697-113dup
XM_005250801.3:c.8697-114_8697-113dup	XP_005250858.1:n.8697-114_8697-113dup
XM_011516848.1:c.8694-114_8694-113dup	XP_011515150.1:n.8694-114_8694-113dup
XM_011516849.1:c.8619-114_8619-113dup	XP_011515151.1:n.8619-114_8619-113dup
XM_011516850.1:c.8319-114_8319-113dup	XP_011515152.1:n.8319-114_8319-113dup
XM_011516851.1:c.5583-114_5583-113dup	XP_011515153.1:n.5583-114_5583-113dup
XM_011516852.1:c.5583-114_5583-113dup	XP_011515154.1:n.5583-114_5583-113dup
XM_011516854.1:c.4476-114_4476-113dup	XP_011515156.1:n.4476-114_4476-113dup
XM_005250800.3:c.8697-114_8697-113dup	XP_005250857.1:n.8697-114_8697-113dup
XM_005250801.5:c.8697-114_8697-113dup	XP_005250858.1:n.8697-114_8697-113dup
XM_011516848.2:c.8694-114_8694-113dup	XP_011515150.1:n.8694-114_8694-113dup
XM_011516849.2:c.8619-114_8619-113dup	XP_011515151.1:n.8619-114_8619-113dup
XM_011516850.2:c.8319-114_8319-113dup	XP_011515152.1:n.8319-114_8319-113dup
XM_011516851.2:c.5583-114_5583-113dup	XP_011515153.1:n.5583-114_5583-113dup
XM_011516852.2:c.5583-114_5583-113dup	XP_011515154.1:n.5583-114_5583-113dup
XM_011516854.2:c.4476-114_4476-113dup	XP_011515156.1:n.4476-114_4476-113dup
XM_017013109.1:c.8502-114_8502-113dup	XP_016868598.1:n.8502-114_8502-113dup
XM_017013111.1:c.5583-114_5583-113dup	XP_016868600.1:n.5583-114_5583-113dup
XM_017013112.1:c.4254-114_4254-113dup	XP_016868601.1:n.4254-114_4254-113dup
XM_024447074.1:c.7482-114_7482-113dup	XP_024302842.1:n.7482-114_7482-113dup
NM_017890.5:c.8697-114_8697-113dup MANE Plus Clinical	NP_060360.3:n.8697-114_8697-113dup
NM_152564.5:c.8622-114_8622-113dup MANE Select	NP_689777.3:n.8622-114_8622-113dup