Canonical Allele Identifier: CA1117103520

Gene: VPS13B

Linked Data

• dbSNP Id: rs1832163689
• gnomAD v3: 8-99699148-T-TC
• gnomAD v4: 8-99699148-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99699148_99699149insC , CM000670.2:g.99699148_99699149insC	GRCh38
NC_000008.10:g.100711376_100711377insC , CM000670.1:g.100711376_100711377insC	GRCh37
NC_000008.9:g.100780552_100780553insC	NCBI36
NG_007098.2:g.690883_690884insC , LRG_351:g.690883_690884insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.6122-377_6122-376insC	ENSP00000507923.1:n.6122-377_6122-376insC
ENST00000682358.1:n.6192-377_6192-376insC
ENST00000683334.1:c.*1804-377_*1804-376insC	ENSP00000507369.1:n.*1804-377_*1804-376insC
ENST00000357162.7:c.6047-377_6047-376insC MANE Select	ENSP00000349685.2:n.6047-377_6047-376insC
ENST00000358544.7:c.6122-377_6122-376insC MANE Plus Clinical	ENSP00000351346.2:n.6122-377_6122-376insC
ENST00000357162.6:c.6047-377_6047-376insC	ENSP00000349685.2:n.6047-377_6047-376insC
ENST00000358544.6:c.6122-377_6122-376insC	ENSP00000351346.2:n.6122-377_6122-376insC
NM_017890.4:c.6122-377_6122-376insC , LRG_351t1:c.6122-377_6122-376insC	NP_060360.3:n.6122-377_6122-376insC
NM_152564.4:c.6047-377_6047-376insC , LRG_351t2:c.6047-377_6047-376insC	NP_689777.3:n.6047-377_6047-376insC
XM_005250800.2:c.6122-377_6122-376insC	XP_005250857.1:n.6122-377_6122-376insC
XM_005250801.3:c.6122-377_6122-376insC	XP_005250858.1:n.6122-377_6122-376insC
XM_011516848.1:c.6119-377_6119-376insC	XP_011515150.1:n.6119-377_6119-376insC
XM_011516849.1:c.6044-377_6044-376insC	XP_011515151.1:n.6044-377_6044-376insC
XM_011516850.1:c.5744-377_5744-376insC	XP_011515152.1:n.5744-377_5744-376insC
XM_011516851.1:c.3008-377_3008-376insC	XP_011515153.1:n.3008-377_3008-376insC
XM_011516852.1:c.3008-377_3008-376insC	XP_011515154.1:n.3008-377_3008-376insC
XM_011516853.1:c.6122-377_6122-376insC	XP_011515155.1:n.6122-377_6122-376insC
XM_011516854.1:c.1901-377_1901-376insC	XP_011515156.1:n.1901-377_1901-376insC
XM_005250800.3:c.6122-377_6122-376insC	XP_005250857.1:n.6122-377_6122-376insC
XM_005250801.5:c.6122-377_6122-376insC	XP_005250858.1:n.6122-377_6122-376insC
XM_011516848.2:c.6119-377_6119-376insC	XP_011515150.1:n.6119-377_6119-376insC
XM_011516849.2:c.6044-377_6044-376insC	XP_011515151.1:n.6044-377_6044-376insC
XM_011516850.2:c.5744-377_5744-376insC	XP_011515152.1:n.5744-377_5744-376insC
XM_011516851.2:c.3008-377_3008-376insC	XP_011515153.1:n.3008-377_3008-376insC
XM_011516852.2:c.3008-377_3008-376insC	XP_011515154.1:n.3008-377_3008-376insC
XM_011516853.2:c.6122-377_6122-376insC	XP_011515155.1:n.6122-377_6122-376insC
XM_011516854.2:c.1901-377_1901-376insC	XP_011515156.1:n.1901-377_1901-376insC
XM_017013109.1:c.5927-377_5927-376insC	XP_016868598.1:n.5927-377_5927-376insC
XM_017013111.1:c.3008-377_3008-376insC	XP_016868600.1:n.3008-377_3008-376insC
XM_017013112.1:c.1679-377_1679-376insC	XP_016868601.1:n.1679-377_1679-376insC
XM_024447074.1:c.4907-377_4907-376insC	XP_024302842.1:n.4907-377_4907-376insC
XR_001745482.2:n.6083-377_6083-376insC
NM_017890.5:c.6122-377_6122-376insC MANE Plus Clinical	NP_060360.3:n.6122-377_6122-376insC
NM_152564.5:c.6047-377_6047-376insC MANE Select	NP_689777.3:n.6047-377_6047-376insC