Canonical Allele Identifier: CA16618723
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 424350
ClinVar RCV Id: RCV000479240
dbSNP Id: rs1064796925
MyVariant Identifiers: chr8:g.100712015_100712016del (hg19) chr8:g.99699787_99699788del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99699787_99699788del , CM000670.2:g.99699787_99699788del GRCh38
NC_000008.10:g.100712015_100712016del , CM000670.1:g.100712015_100712016del GRCh37
NC_000008.9:g.100781191_100781192del NCBI36
NG_007098.2:g.691522_691523del , LRG_351:g.691522_691523del

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.6384_6385del ENSP00000507923.1:p.Ser2129LeufsTer?
ENST00000682358.1:n.6454_6455del
ENST00000683334.1:c.*2066_*2067del ENSP00000507369.1:n.*2066_*2067del
ENST00000357162.7:c.6309_6310del MANE Select ENSP00000349685.2:p.Ser2104LeufsTer?
ENST00000358544.7:c.6384_6385del MANE Plus Clinical ENSP00000351346.2:p.Ser2129LeufsTer?
ENST00000357162.6:c.6309_6310del ENSP00000349685.2:p.Ser2104LeufsTer?
ENST00000358544.6:c.6384_6385del ENSP00000351346.2:p.Ser2129LeufsTer?
NM_017890.4:c.6384_6385del , LRG_351t1:c.6384_6385del NP_060360.3:p.Ser2129LeufsTer?
NM_152564.4:c.6309_6310del , LRG_351t2:c.6309_6310del NP_689777.3:p.Ser2104LeufsTer?
XM_005250800.2:c.6384_6385del XP_005250857.1:p.Ser2129LeufsTer?
XM_005250801.3:c.6384_6385del XP_005250858.1:p.Ser2129LeufsTer?
XM_011516848.1:c.6381_6382del XP_011515150.1:p.Ser2128LeufsTer?
XM_011516849.1:c.6306_6307del XP_011515151.1:p.Ser2103LeufsTer?
XM_011516850.1:c.6006_6007del XP_011515152.1:p.Ser2003LeufsTer?
XM_011516851.1:c.3270_3271del XP_011515153.1:p.Ser1091LeufsTer?
XM_011516852.1:c.3270_3271del XP_011515154.1:p.Ser1091LeufsTer?
XM_011516853.1:c.6384_6385del XP_011515155.1:p.Ser2129LeufsTer?
XM_011516854.1:c.2163_2164del XP_011515156.1:p.Ser722LeufsTer?
XM_005250800.3:c.6384_6385del XP_005250857.1:p.Ser2129LeufsTer?
XM_005250801.5:c.6384_6385del XP_005250858.1:p.Ser2129LeufsTer?
XM_011516848.2:c.6381_6382del XP_011515150.1:p.Ser2128LeufsTer?
XM_011516849.2:c.6306_6307del XP_011515151.1:p.Ser2103LeufsTer?
XM_011516850.2:c.6006_6007del XP_011515152.1:p.Ser2003LeufsTer?
XM_011516851.2:c.3270_3271del XP_011515153.1:p.Ser1091LeufsTer?
XM_011516852.2:c.3270_3271del XP_011515154.1:p.Ser1091LeufsTer?
XM_011516853.2:c.6384_6385del XP_011515155.1:p.Ser2129LeufsTer?
XM_011516854.2:c.2163_2164del XP_011515156.1:p.Ser722LeufsTer?
XM_017013109.1:c.6189_6190del XP_016868598.1:p.Ser2064LeufsTer?
XM_017013111.1:c.3270_3271del XP_016868600.1:p.Ser1091LeufsTer?
XM_017013112.1:c.1941_1942del XP_016868601.1:p.Ser648LeufsTer?
XM_024447074.1:c.5169_5170del XP_024302842.1:p.Ser1724LeufsTer?
NM_017890.5:c.6384_6385del MANE Plus Clinical NP_060360.3:p.Ser2129LeufsTer?
NM_152564.5:c.6309_6310del MANE Select NP_689777.3:p.Ser2104LeufsTer?
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