Canonical Allele Identifier: CA583878366

Gene: VPS13B

Linked Data

• dbSNP Id: rs1438431406
• gnomAD v2: 8-100711666-CTT-C
• gnomAD v3: 8-99699438-CTT-C
• gnomAD v4: 8-99699438-CTT-C
• MyVariant Identifiers: chr8:g.100711667_100711668del (hg19) ; chr8:g.99699439_99699440del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99699441_99699442del , CM000670.2:g.99699441_99699442del	GRCh38
NC_000008.10:g.100711669_100711670del , CM000670.1:g.100711669_100711670del	GRCh37
NC_000008.9:g.100780845_100780846del	NCBI36
NG_007098.2:g.691176_691177del , LRG_351:g.691176_691177del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.6122-84_6122-83del	ENSP00000507923.1:n.6122-84_6122-83del
ENST00000682358.1:n.6192-84_6192-83del
ENST00000683334.1:c.*1804-84_*1804-83del	ENSP00000507369.1:n.*1804-84_*1804-83del
ENST00000357162.7:c.6047-84_6047-83del MANE Select	ENSP00000349685.2:n.6047-84_6047-83del
ENST00000358544.7:c.6122-84_6122-83del MANE Plus Clinical	ENSP00000351346.2:n.6122-84_6122-83del
ENST00000357162.6:c.6047-84_6047-83del	ENSP00000349685.2:n.6047-84_6047-83del
ENST00000358544.6:c.6122-84_6122-83del	ENSP00000351346.2:n.6122-84_6122-83del
NM_017890.4:c.6122-84_6122-83del , LRG_351t1:c.6122-84_6122-83del	NP_060360.3:n.6122-84_6122-83del
NM_152564.4:c.6047-84_6047-83del , LRG_351t2:c.6047-84_6047-83del	NP_689777.3:n.6047-84_6047-83del
XM_005250800.2:c.6122-84_6122-83del	XP_005250857.1:n.6122-84_6122-83del
XM_005250801.3:c.6122-84_6122-83del	XP_005250858.1:n.6122-84_6122-83del
XM_011516848.1:c.6119-84_6119-83del	XP_011515150.1:n.6119-84_6119-83del
XM_011516849.1:c.6044-84_6044-83del	XP_011515151.1:n.6044-84_6044-83del
XM_011516850.1:c.5744-84_5744-83del	XP_011515152.1:n.5744-84_5744-83del
XM_011516851.1:c.3008-84_3008-83del	XP_011515153.1:n.3008-84_3008-83del
XM_011516852.1:c.3008-84_3008-83del	XP_011515154.1:n.3008-84_3008-83del
XM_011516853.1:c.6122-84_6122-83del	XP_011515155.1:n.6122-84_6122-83del
XM_011516854.1:c.1901-84_1901-83del	XP_011515156.1:n.1901-84_1901-83del
XM_005250800.3:c.6122-84_6122-83del	XP_005250857.1:n.6122-84_6122-83del
XM_005250801.5:c.6122-84_6122-83del	XP_005250858.1:n.6122-84_6122-83del
XM_011516848.2:c.6119-84_6119-83del	XP_011515150.1:n.6119-84_6119-83del
XM_011516849.2:c.6044-84_6044-83del	XP_011515151.1:n.6044-84_6044-83del
XM_011516850.2:c.5744-84_5744-83del	XP_011515152.1:n.5744-84_5744-83del
XM_011516851.2:c.3008-84_3008-83del	XP_011515153.1:n.3008-84_3008-83del
XM_011516852.2:c.3008-84_3008-83del	XP_011515154.1:n.3008-84_3008-83del
XM_011516853.2:c.6122-84_6122-83del	XP_011515155.1:n.6122-84_6122-83del
XM_011516854.2:c.1901-84_1901-83del	XP_011515156.1:n.1901-84_1901-83del
XM_017013109.1:c.5927-84_5927-83del	XP_016868598.1:n.5927-84_5927-83del
XM_017013111.1:c.3008-84_3008-83del	XP_016868600.1:n.3008-84_3008-83del
XM_017013112.1:c.1679-84_1679-83del	XP_016868601.1:n.1679-84_1679-83del
XM_024447074.1:c.4907-84_4907-83del	XP_024302842.1:n.4907-84_4907-83del
XR_001745482.2:n.6083-84_6083-83del
NM_017890.5:c.6122-84_6122-83del MANE Plus Clinical	NP_060360.3:n.6122-84_6122-83del
NM_152564.5:c.6047-84_6047-83del MANE Select	NP_689777.3:n.6047-84_6047-83del