Canonical Allele Identifier: CA857579739

Gene: VPS13B

Linked Data

• dbSNP Id: rs1462372589
• gnomAD v3: 8-99699151-TTTTTG-T
• gnomAD v4: 8-99699151-TTTTTG-T
• MyVariant Identifiers: chr8:g.100711380_100711384del (hg19) ; chr8:g.99699152_99699156del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99699152_99699156del , CM000670.2:g.99699152_99699156del	GRCh38
NC_000008.10:g.100711380_100711384del , CM000670.1:g.100711380_100711384del	GRCh37
NC_000008.9:g.100780556_100780560del	NCBI36
NG_007098.2:g.690887_690891del , LRG_351:g.690887_690891del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.6122-373_6122-369del	ENSP00000507923.1:n.6122-373_6122-369del
ENST00000682358.1:n.6192-373_6192-369del
ENST00000683334.1:c.*1804-373_*1804-369del	ENSP00000507369.1:n.*1804-373_*1804-369del
ENST00000357162.7:c.6047-373_6047-369del MANE Select	ENSP00000349685.2:n.6047-373_6047-369del
ENST00000358544.7:c.6122-373_6122-369del MANE Plus Clinical	ENSP00000351346.2:n.6122-373_6122-369del
ENST00000357162.6:c.6047-373_6047-369del	ENSP00000349685.2:n.6047-373_6047-369del
ENST00000358544.6:c.6122-373_6122-369del	ENSP00000351346.2:n.6122-373_6122-369del
NM_017890.4:c.6122-373_6122-369del , LRG_351t1:c.6122-373_6122-369del	NP_060360.3:n.6122-373_6122-369del
NM_152564.4:c.6047-373_6047-369del , LRG_351t2:c.6047-373_6047-369del	NP_689777.3:n.6047-373_6047-369del
XM_005250800.2:c.6122-373_6122-369del	XP_005250857.1:n.6122-373_6122-369del
XM_005250801.3:c.6122-373_6122-369del	XP_005250858.1:n.6122-373_6122-369del
XM_011516848.1:c.6119-373_6119-369del	XP_011515150.1:n.6119-373_6119-369del
XM_011516849.1:c.6044-373_6044-369del	XP_011515151.1:n.6044-373_6044-369del
XM_011516850.1:c.5744-373_5744-369del	XP_011515152.1:n.5744-373_5744-369del
XM_011516851.1:c.3008-373_3008-369del	XP_011515153.1:n.3008-373_3008-369del
XM_011516852.1:c.3008-373_3008-369del	XP_011515154.1:n.3008-373_3008-369del
XM_011516853.1:c.6122-373_6122-369del	XP_011515155.1:n.6122-373_6122-369del
XM_011516854.1:c.1901-373_1901-369del	XP_011515156.1:n.1901-373_1901-369del
XM_005250800.3:c.6122-373_6122-369del	XP_005250857.1:n.6122-373_6122-369del
XM_005250801.5:c.6122-373_6122-369del	XP_005250858.1:n.6122-373_6122-369del
XM_011516848.2:c.6119-373_6119-369del	XP_011515150.1:n.6119-373_6119-369del
XM_011516849.2:c.6044-373_6044-369del	XP_011515151.1:n.6044-373_6044-369del
XM_011516850.2:c.5744-373_5744-369del	XP_011515152.1:n.5744-373_5744-369del
XM_011516851.2:c.3008-373_3008-369del	XP_011515153.1:n.3008-373_3008-369del
XM_011516852.2:c.3008-373_3008-369del	XP_011515154.1:n.3008-373_3008-369del
XM_011516853.2:c.6122-373_6122-369del	XP_011515155.1:n.6122-373_6122-369del
XM_011516854.2:c.1901-373_1901-369del	XP_011515156.1:n.1901-373_1901-369del
XM_017013109.1:c.5927-373_5927-369del	XP_016868598.1:n.5927-373_5927-369del
XM_017013111.1:c.3008-373_3008-369del	XP_016868600.1:n.3008-373_3008-369del
XM_017013112.1:c.1679-373_1679-369del	XP_016868601.1:n.1679-373_1679-369del
XM_024447074.1:c.4907-373_4907-369del	XP_024302842.1:n.4907-373_4907-369del
XR_001745482.2:n.6083-373_6083-369del
NM_017890.5:c.6122-373_6122-369del MANE Plus Clinical	NP_060360.3:n.6122-373_6122-369del
NM_152564.5:c.6047-373_6047-369del MANE Select	NP_689777.3:n.6047-373_6047-369del