Canonical Allele Identifier: CA16041267
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 370592
ClinVar RCV Id: RCV000411812
dbSNP Id: rs1057516614
MyVariant Identifiers: chr8:g.100847904_100847905del (hg19) chr8:g.99835676_99835677del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99835676_99835677del , CM000670.2:g.99835676_99835677del GRCh38
NC_000008.10:g.100847904_100847905del , CM000670.1:g.100847904_100847905del GRCh37
NC_000008.9:g.100917080_100917081del NCBI36
NG_007098.2:g.827411_827412del , LRG_351:g.827411_827412del

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.9955_9956del ENSP00000507923.1:p.Pro3319SerfsTer3
ENST00000682358.1:n.10025_10026del
ENST00000683334.1:c.*5637_*5638del ENSP00000507369.1:n.*5637_*5638del
ENST00000357162.7:c.9880_9881del MANE Select ENSP00000349685.2:p.Pro3294SerfsTer3
ENST00000358544.7:c.9955_9956del MANE Plus Clinical ENSP00000351346.2:p.Pro3319SerfsTer3
ENST00000357162.6:c.9880_9881del ENSP00000349685.2:p.Pro3294SerfsTer3
ENST00000358544.6:c.9955_9956del ENSP00000351346.2:p.Pro3319SerfsTer3
NM_017890.4:c.9955_9956del , LRG_351t1:c.9955_9956del NP_060360.3:p.Pro3319SerfsTer3
NM_152564.4:c.9880_9881del , LRG_351t2:c.9880_9881del NP_689777.3:p.Pro3294SerfsTer3
XM_005250800.2:c.9955_9956del XP_005250857.1:p.Pro3319SerfsTer3
XM_005250801.3:c.9955_9956del XP_005250858.1:p.Pro3319SerfsTer3
XM_011516848.1:c.9952_9953del XP_011515150.1:p.Pro3318SerfsTer3
XM_011516849.1:c.9877_9878del XP_011515151.1:p.Pro3293SerfsTer3
XM_011516850.1:c.9577_9578del XP_011515152.1:p.Pro3193SerfsTer3
XM_011516851.1:c.6841_6842del XP_011515153.1:p.Pro2281SerfsTer3
XM_011516852.1:c.6841_6842del XP_011515154.1:p.Pro2281SerfsTer3
XM_011516854.1:c.5734_5735del XP_011515156.1:p.Pro1912SerfsTer3
XM_005250800.3:c.9955_9956del XP_005250857.1:p.Pro3319SerfsTer3
XM_005250801.5:c.9955_9956del XP_005250858.1:p.Pro3319SerfsTer3
XM_011516848.2:c.9952_9953del XP_011515150.1:p.Pro3318SerfsTer3
XM_011516849.2:c.9877_9878del XP_011515151.1:p.Pro3293SerfsTer3
XM_011516850.2:c.9577_9578del XP_011515152.1:p.Pro3193SerfsTer3
XM_011516851.2:c.6841_6842del XP_011515153.1:p.Pro2281SerfsTer3
XM_011516852.2:c.6841_6842del XP_011515154.1:p.Pro2281SerfsTer3
XM_011516854.2:c.5734_5735del XP_011515156.1:p.Pro1912SerfsTer3
XM_017013109.1:c.9760_9761del XP_016868598.1:p.Pro3254SerfsTer3
XM_017013111.1:c.6841_6842del XP_016868600.1:p.Pro2281SerfsTer3
XM_017013112.1:c.5512_5513del XP_016868601.1:p.Pro1838SerfsTer3
XM_024447074.1:c.8740_8741del XP_024302842.1:p.Pro2914SerfsTer3
NM_017890.5:c.9955_9956del MANE Plus Clinical NP_060360.3:p.Pro3319SerfsTer3
NM_152564.5:c.9880_9881del MANE Select NP_689777.3:p.Pro3294SerfsTer3
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