Canonical Allele Identifier: CA16041270
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 371264
ClinVar RCV Id: RCV000410386
dbSNP Id: rs1057517137
MyVariant Identifiers: chr8:g.100866290dupT (hg19) chr8:g.99854062dupT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99854062dup , CM000670.2:g.99854062dup GRCh38
NC_000008.10:g.100866290dup , CM000670.1:g.100866290dup GRCh37
NC_000008.9:g.100935466dup NCBI36
NG_007098.2:g.845797dup , LRG_351:g.845797dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.10748dup ENSP00000507923.1:p.Lys3584GlufsTer?
ENST00000682358.1:n.10818dup
ENST00000683334.1:c.*6430dup ENSP00000507369.1:n.*6430dup
ENST00000357162.7:c.10673dup MANE Select ENSP00000349685.2:p.Lys3559GlufsTer?
ENST00000358544.7:c.10748dup MANE Plus Clinical ENSP00000351346.2:p.Lys3584GlufsTer?
ENST00000357162.6:c.10673dup ENSP00000349685.2:p.Lys3559GlufsTer?
ENST00000358544.6:c.10748dup ENSP00000351346.2:p.Lys3584GlufsTer?
NM_017890.4:c.10748dup , LRG_351t1:c.10748dup NP_060360.3:p.Lys3584GlufsTer?
NM_152564.4:c.10673dup , LRG_351t2:c.10673dup NP_689777.3:p.Lys3559GlufsTer?
XM_005250800.2:c.10748dup XP_005250857.1:p.Lys3584GlufsTer?
XM_005250801.3:c.10748dup XP_005250858.1:p.Lys3584GlufsTer?
XM_011516848.1:c.10745dup XP_011515150.1:p.Lys3583GlufsTer?
XM_011516849.1:c.10670dup XP_011515151.1:p.Lys3558GlufsTer?
XM_011516850.1:c.10370dup XP_011515152.1:p.Lys3458GlufsTer?
XM_011516851.1:c.7634dup XP_011515153.1:p.Lys2546GlufsTer?
XM_011516852.1:c.7634dup XP_011515154.1:p.Lys2546GlufsTer?
XM_011516854.1:c.6527dup XP_011515156.1:p.Lys2177GlufsTer?
XM_005250800.3:c.10748dup XP_005250857.1:p.Lys3584GlufsTer?
XM_005250801.5:c.10748dup XP_005250858.1:p.Lys3584GlufsTer?
XM_011516848.2:c.10745dup XP_011515150.1:p.Lys3583GlufsTer?
XM_011516849.2:c.10670dup XP_011515151.1:p.Lys3558GlufsTer?
XM_011516850.2:c.10370dup XP_011515152.1:p.Lys3458GlufsTer?
XM_011516851.2:c.7634dup XP_011515153.1:p.Lys2546GlufsTer?
XM_011516852.2:c.7634dup XP_011515154.1:p.Lys2546GlufsTer?
XM_011516854.2:c.6527dup XP_011515156.1:p.Lys2177GlufsTer?
XM_017013109.1:c.10553dup XP_016868598.1:p.Lys3519GlufsTer?
XM_017013111.1:c.7634dup XP_016868600.1:p.Lys2546GlufsTer?
XM_017013112.1:c.6305dup XP_016868601.1:p.Lys2103GlufsTer?
XM_024447074.1:c.9533dup XP_024302842.1:p.Lys3179GlufsTer?
NM_017890.5:c.10748dup MANE Plus Clinical NP_060360.3:p.Lys3584GlufsTer?
NM_152564.5:c.10673dup MANE Select NP_689777.3:p.Lys3559GlufsTer?
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