Canonical Allele Identifier: CA583878348

Gene: VPS13B

Linked Data

• dbSNP Id: rs1438236377
• gnomAD v2: 8-100711490-G-GCCCT
• gnomAD v3: 8-99699262-G-GCCCT
• gnomAD v4: 8-99699262-G-GCCCT
• MyVariant Identifiers: chr8:g.100711490_100711491insCCCT (hg19) ; chr8:g.99699262_99699263insCCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99699264_99699267dup , CM000670.2:g.99699264_99699267dup	GRCh38
NC_000008.10:g.100711492_100711495dup , CM000670.1:g.100711492_100711495dup	GRCh37
NC_000008.9:g.100780668_100780671dup	NCBI36
NG_007098.2:g.690999_691002dup , LRG_351:g.690999_691002dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.6122-261_6122-258dup	ENSP00000507923.1:n.6122-261_6122-258dup
ENST00000682358.1:n.6192-261_6192-258dup
ENST00000683334.1:c.*1804-261_*1804-258dup	ENSP00000507369.1:n.*1804-261_*1804-258dup
ENST00000357162.7:c.6047-261_6047-258dup MANE Select	ENSP00000349685.2:n.6047-261_6047-258dup
ENST00000358544.7:c.6122-261_6122-258dup MANE Plus Clinical	ENSP00000351346.2:n.6122-261_6122-258dup
ENST00000357162.6:c.6047-261_6047-258dup	ENSP00000349685.2:n.6047-261_6047-258dup
ENST00000358544.6:c.6122-261_6122-258dup	ENSP00000351346.2:n.6122-261_6122-258dup
NM_017890.4:c.6122-261_6122-258dup , LRG_351t1:c.6122-261_6122-258dup	NP_060360.3:n.6122-261_6122-258dup
NM_152564.4:c.6047-261_6047-258dup , LRG_351t2:c.6047-261_6047-258dup	NP_689777.3:n.6047-261_6047-258dup
XM_005250800.2:c.6122-261_6122-258dup	XP_005250857.1:n.6122-261_6122-258dup
XM_005250801.3:c.6122-261_6122-258dup	XP_005250858.1:n.6122-261_6122-258dup
XM_011516848.1:c.6119-261_6119-258dup	XP_011515150.1:n.6119-261_6119-258dup
XM_011516849.1:c.6044-261_6044-258dup	XP_011515151.1:n.6044-261_6044-258dup
XM_011516850.1:c.5744-261_5744-258dup	XP_011515152.1:n.5744-261_5744-258dup
XM_011516851.1:c.3008-261_3008-258dup	XP_011515153.1:n.3008-261_3008-258dup
XM_011516852.1:c.3008-261_3008-258dup	XP_011515154.1:n.3008-261_3008-258dup
XM_011516853.1:c.6122-261_6122-258dup	XP_011515155.1:n.6122-261_6122-258dup
XM_011516854.1:c.1901-261_1901-258dup	XP_011515156.1:n.1901-261_1901-258dup
XM_005250800.3:c.6122-261_6122-258dup	XP_005250857.1:n.6122-261_6122-258dup
XM_005250801.5:c.6122-261_6122-258dup	XP_005250858.1:n.6122-261_6122-258dup
XM_011516848.2:c.6119-261_6119-258dup	XP_011515150.1:n.6119-261_6119-258dup
XM_011516849.2:c.6044-261_6044-258dup	XP_011515151.1:n.6044-261_6044-258dup
XM_011516850.2:c.5744-261_5744-258dup	XP_011515152.1:n.5744-261_5744-258dup
XM_011516851.2:c.3008-261_3008-258dup	XP_011515153.1:n.3008-261_3008-258dup
XM_011516852.2:c.3008-261_3008-258dup	XP_011515154.1:n.3008-261_3008-258dup
XM_011516853.2:c.6122-261_6122-258dup	XP_011515155.1:n.6122-261_6122-258dup
XM_011516854.2:c.1901-261_1901-258dup	XP_011515156.1:n.1901-261_1901-258dup
XM_017013109.1:c.5927-261_5927-258dup	XP_016868598.1:n.5927-261_5927-258dup
XM_017013111.1:c.3008-261_3008-258dup	XP_016868600.1:n.3008-261_3008-258dup
XM_017013112.1:c.1679-261_1679-258dup	XP_016868601.1:n.1679-261_1679-258dup
XM_024447074.1:c.4907-261_4907-258dup	XP_024302842.1:n.4907-261_4907-258dup
XR_001745482.2:n.6083-261_6083-258dup
NM_017890.5:c.6122-261_6122-258dup MANE Plus Clinical	NP_060360.3:n.6122-261_6122-258dup
NM_152564.5:c.6047-261_6047-258dup MANE Select	NP_689777.3:n.6047-261_6047-258dup