Canonical Allele Identifier: CA16041248
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 370191
ClinVar RCV Id: RCV000412351
dbSNP Id: rs1057516302
MyVariant Identifiers: chr8:g.100732744del (hg19) chr8:g.99720516del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99720516del , CM000670.2:g.99720516del GRCh38
NC_000008.10:g.100732744del , CM000670.1:g.100732744del GRCh37
NC_000008.9:g.100801920del NCBI36
NG_007098.2:g.712251del , LRG_351:g.712251del

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.6904del ENSP00000507923.1:p.Leu2302TyrfsTer15
ENST00000682358.1:n.6974del
ENST00000683334.1:c.*2586del ENSP00000507369.1:n.*2586del
ENST00000357162.7:c.6829del MANE Select ENSP00000349685.2:p.Leu2277TyrfsTer15
ENST00000358544.7:c.6904del MANE Plus Clinical ENSP00000351346.2:p.Leu2302TyrfsTer15
ENST00000357162.6:c.6829del ENSP00000349685.2:p.Leu2277TyrfsTer15
ENST00000358544.6:c.6904del ENSP00000351346.2:p.Leu2302TyrfsTer15
NM_017890.4:c.6904del , LRG_351t1:c.6904del NP_060360.3:p.Leu2302TyrfsTer15
NM_152564.4:c.6829del , LRG_351t2:c.6829del NP_689777.3:p.Leu2277TyrfsTer15
XM_005250800.2:c.6904del XP_005250857.1:p.Leu2302TyrfsTer15
XM_005250801.3:c.6904del XP_005250858.1:p.Leu2302TyrfsTer15
XM_011516848.1:c.6901del XP_011515150.1:p.Leu2301TyrfsTer15
XM_011516849.1:c.6826del XP_011515151.1:p.Leu2276TyrfsTer15
XM_011516850.1:c.6526del XP_011515152.1:p.Leu2176TyrfsTer15
XM_011516851.1:c.3790del XP_011515153.1:p.Leu1264TyrfsTer15
XM_011516852.1:c.3790del XP_011515154.1:p.Leu1264TyrfsTer15
XM_011516853.1:c.6904del XP_011515155.1:p.Leu2302TyrfsTer15
XM_011516854.1:c.2683del XP_011515156.1:p.Leu895TyrfsTer15
XR_928446.1:n.2066-1302del
XM_005250800.3:c.6904del XP_005250857.1:p.Leu2302TyrfsTer15
XM_005250801.5:c.6904del XP_005250858.1:p.Leu2302TyrfsTer15
XM_011516848.2:c.6901del XP_011515150.1:p.Leu2301TyrfsTer15
XM_011516849.2:c.6826del XP_011515151.1:p.Leu2276TyrfsTer15
XM_011516850.2:c.6526del XP_011515152.1:p.Leu2176TyrfsTer15
XM_011516851.2:c.3790del XP_011515153.1:p.Leu1264TyrfsTer15
XM_011516852.2:c.3790del XP_011515154.1:p.Leu1264TyrfsTer15
XM_011516853.2:c.6904del XP_011515155.1:p.Leu2302TyrfsTer15
XM_011516854.2:c.2683del XP_011515156.1:p.Leu895TyrfsTer15
XM_017013109.1:c.6709del XP_016868598.1:p.Leu2237TyrfsTer15
XM_017013111.1:c.3790del XP_016868600.1:p.Leu1264TyrfsTer15
XM_017013112.1:c.2461del XP_016868601.1:p.Leu821TyrfsTer15
XM_024447074.1:c.5689del XP_024302842.1:p.Leu1897TyrfsTer15
NM_017890.5:c.6904del MANE Plus Clinical NP_060360.3:p.Leu2302TyrfsTer15
NM_152564.5:c.6829del MANE Select NP_689777.3:p.Leu2277TyrfsTer15
Search 100 bp 5'
Search 100 bp 3'