Canonical Allele Identifier: CA583878332

Gene: VPS13B

Linked Data

• dbSNP Id: rs1832165284
• gnomAD v2: 8-100711383-TGAAGAAAGGCCAG-T
• gnomAD v3: 8-99699155-TGAAGAAAGGCCAG-T
• gnomAD v4: 8-99699155-TGAAGAAAGGCCAG-T
• MyVariant Identifiers: chr8:g.100711384_100711396del (hg19) ; chr8:g.99699156_99699168del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99699156_99699168del , CM000670.2:g.99699156_99699168del	GRCh38
NC_000008.10:g.100711384_100711396del , CM000670.1:g.100711384_100711396del	GRCh37
NC_000008.9:g.100780560_100780572del	NCBI36
NG_007098.2:g.690891_690903del , LRG_351:g.690891_690903del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.6122-369_6122-357del	ENSP00000507923.1:n.6122-369_6122-357del
ENST00000682358.1:n.6192-369_6192-357del
ENST00000683334.1:c.*1804-369_*1804-357del	ENSP00000507369.1:n.*1804-369_*1804-357del
ENST00000357162.7:c.6047-369_6047-357del MANE Select	ENSP00000349685.2:n.6047-369_6047-357del
ENST00000358544.7:c.6122-369_6122-357del MANE Plus Clinical	ENSP00000351346.2:n.6122-369_6122-357del
ENST00000357162.6:c.6047-369_6047-357del	ENSP00000349685.2:n.6047-369_6047-357del
ENST00000358544.6:c.6122-369_6122-357del	ENSP00000351346.2:n.6122-369_6122-357del
NM_017890.4:c.6122-369_6122-357del , LRG_351t1:c.6122-369_6122-357del	NP_060360.3:n.6122-369_6122-357del
NM_152564.4:c.6047-369_6047-357del , LRG_351t2:c.6047-369_6047-357del	NP_689777.3:n.6047-369_6047-357del
XM_005250800.2:c.6122-369_6122-357del	XP_005250857.1:n.6122-369_6122-357del
XM_005250801.3:c.6122-369_6122-357del	XP_005250858.1:n.6122-369_6122-357del
XM_011516848.1:c.6119-369_6119-357del	XP_011515150.1:n.6119-369_6119-357del
XM_011516849.1:c.6044-369_6044-357del	XP_011515151.1:n.6044-369_6044-357del
XM_011516850.1:c.5744-369_5744-357del	XP_011515152.1:n.5744-369_5744-357del
XM_011516851.1:c.3008-369_3008-357del	XP_011515153.1:n.3008-369_3008-357del
XM_011516852.1:c.3008-369_3008-357del	XP_011515154.1:n.3008-369_3008-357del
XM_011516853.1:c.6122-369_6122-357del	XP_011515155.1:n.6122-369_6122-357del
XM_011516854.1:c.1901-369_1901-357del	XP_011515156.1:n.1901-369_1901-357del
XM_005250800.3:c.6122-369_6122-357del	XP_005250857.1:n.6122-369_6122-357del
XM_005250801.5:c.6122-369_6122-357del	XP_005250858.1:n.6122-369_6122-357del
XM_011516848.2:c.6119-369_6119-357del	XP_011515150.1:n.6119-369_6119-357del
XM_011516849.2:c.6044-369_6044-357del	XP_011515151.1:n.6044-369_6044-357del
XM_011516850.2:c.5744-369_5744-357del	XP_011515152.1:n.5744-369_5744-357del
XM_011516851.2:c.3008-369_3008-357del	XP_011515153.1:n.3008-369_3008-357del
XM_011516852.2:c.3008-369_3008-357del	XP_011515154.1:n.3008-369_3008-357del
XM_011516853.2:c.6122-369_6122-357del	XP_011515155.1:n.6122-369_6122-357del
XM_011516854.2:c.1901-369_1901-357del	XP_011515156.1:n.1901-369_1901-357del
XM_017013109.1:c.5927-369_5927-357del	XP_016868598.1:n.5927-369_5927-357del
XM_017013111.1:c.3008-369_3008-357del	XP_016868600.1:n.3008-369_3008-357del
XM_017013112.1:c.1679-369_1679-357del	XP_016868601.1:n.1679-369_1679-357del
XM_024447074.1:c.4907-369_4907-357del	XP_024302842.1:n.4907-369_4907-357del
XR_001745482.2:n.6083-369_6083-357del
NM_017890.5:c.6122-369_6122-357del MANE Plus Clinical	NP_060360.3:n.6122-369_6122-357del
NM_152564.5:c.6047-369_6047-357del MANE Select	NP_689777.3:n.6047-369_6047-357del