Canonical Allele Identifier: CA16041266
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 370536
ClinVar RCV Id: RCV000409355
dbSNP Id: rs1057516568
MyVariant Identifiers: chr8:g.100847854del (hg19) chr8:g.99835626del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99835626del , CM000670.2:g.99835626del GRCh38
NC_000008.10:g.100847854del , CM000670.1:g.100847854del GRCh37
NC_000008.9:g.100917030del NCBI36
NG_007098.2:g.827361del , LRG_351:g.827361del

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.9905del ENSP00000507923.1:p.Pro3302ArgfsTer14
ENST00000682358.1:n.9975del
ENST00000683334.1:c.*5587del ENSP00000507369.1:n.*5587del
ENST00000357162.7:c.9830del MANE Select ENSP00000349685.2:p.Pro3277ArgfsTer14
ENST00000358544.7:c.9905del MANE Plus Clinical ENSP00000351346.2:p.Pro3302ArgfsTer14
ENST00000357162.6:c.9830del ENSP00000349685.2:p.Pro3277ArgfsTer14
ENST00000358544.6:c.9905del ENSP00000351346.2:p.Pro3302ArgfsTer14
NM_017890.4:c.9905del , LRG_351t1:c.9905del NP_060360.3:p.Pro3302ArgfsTer14
NM_152564.4:c.9830del , LRG_351t2:c.9830del NP_689777.3:p.Pro3277ArgfsTer14
XM_005250800.2:c.9905del XP_005250857.1:p.Pro3302ArgfsTer14
XM_005250801.3:c.9905del XP_005250858.1:p.Pro3302ArgfsTer14
XM_011516848.1:c.9902del XP_011515150.1:p.Pro3301ArgfsTer14
XM_011516849.1:c.9827del XP_011515151.1:p.Pro3276ArgfsTer14
XM_011516850.1:c.9527del XP_011515152.1:p.Pro3176ArgfsTer14
XM_011516851.1:c.6791del XP_011515153.1:p.Pro2264ArgfsTer14
XM_011516852.1:c.6791del XP_011515154.1:p.Pro2264ArgfsTer14
XM_011516854.1:c.5684del XP_011515156.1:p.Pro1895ArgfsTer14
XM_005250800.3:c.9905del XP_005250857.1:p.Pro3302ArgfsTer14
XM_005250801.5:c.9905del XP_005250858.1:p.Pro3302ArgfsTer14
XM_011516848.2:c.9902del XP_011515150.1:p.Pro3301ArgfsTer14
XM_011516849.2:c.9827del XP_011515151.1:p.Pro3276ArgfsTer14
XM_011516850.2:c.9527del XP_011515152.1:p.Pro3176ArgfsTer14
XM_011516851.2:c.6791del XP_011515153.1:p.Pro2264ArgfsTer14
XM_011516852.2:c.6791del XP_011515154.1:p.Pro2264ArgfsTer14
XM_011516854.2:c.5684del XP_011515156.1:p.Pro1895ArgfsTer14
XM_017013109.1:c.9710del XP_016868598.1:p.Pro3237ArgfsTer14
XM_017013111.1:c.6791del XP_016868600.1:p.Pro2264ArgfsTer14
XM_017013112.1:c.5462del XP_016868601.1:p.Pro1821ArgfsTer14
XM_024447074.1:c.8690del XP_024302842.1:p.Pro2897ArgfsTer14
NM_017890.5:c.9905del MANE Plus Clinical NP_060360.3:p.Pro3302ArgfsTer14
NM_152564.5:c.9830del MANE Select NP_689777.3:p.Pro3277ArgfsTer14
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