Canonical Allele Identifier: CA16041272
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 371350
ClinVar RCV Id: RCV000411667
dbSNP Id: rs1057517202
MyVariant Identifiers: chr8:g.100874064_100874073del (hg19) chr8:g.99861836_99861845del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99861836_99861845del , CM000670.2:g.99861836_99861845del GRCh38
NC_000008.10:g.100874064_100874073del , CM000670.1:g.100874064_100874073del GRCh37
NC_000008.9:g.100943240_100943249del NCBI36
NG_007098.2:g.853571_853580del , LRG_351:g.853571_853580del

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.*274_*283del ENSP00000507923.1:n.*274_*283del
ENST00000682358.1:n.11250_11259del
ENST00000683334.1:c.*6862_*6871del ENSP00000507369.1:n.*6862_*6871del
ENST00000357162.7:c.11105_11114del MANE Select ENSP00000349685.2:p.Ser3702TrpfsTer?
ENST00000358544.7:c.11180_11189del MANE Plus Clinical ENSP00000351346.2:p.Ser3727TrpfsTer?
ENST00000357162.6:c.11105_11114del ENSP00000349685.2:p.Ser3702TrpfsTer?
ENST00000358544.6:c.11180_11189del ENSP00000351346.2:p.Ser3727TrpfsTer?
NM_017890.4:c.11180_11189del , LRG_351t1:c.11180_11189del NP_060360.3:p.Ser3727TrpfsTer?
NM_152564.4:c.11105_11114del , LRG_351t2:c.11105_11114del NP_689777.3:p.Ser3702TrpfsTer?
XM_005250800.2:c.11180_11189del XP_005250857.1:p.Ser3727TrpfsTer?
XM_005250801.3:c.11180_11189del XP_005250858.1:p.Ser3727TrpfsTer?
XM_011516848.1:c.11177_11186del XP_011515150.1:p.Ser3726TrpfsTer?
XM_011516849.1:c.11102_11111del XP_011515151.1:p.Ser3701TrpfsTer?
XM_011516850.1:c.10802_10811del XP_011515152.1:p.Ser3601TrpfsTer?
XM_011516851.1:c.8066_8075del XP_011515153.1:p.Ser2689TrpfsTer?
XM_011516852.1:c.8066_8075del XP_011515154.1:p.Ser2689TrpfsTer?
XM_011516854.1:c.6959_6968del XP_011515156.1:p.Ser2320TrpfsTer?
XM_005250800.3:c.11180_11189del XP_005250857.1:p.Ser3727TrpfsTer?
XM_005250801.5:c.11180_11189del XP_005250858.1:p.Ser3727TrpfsTer?
XM_011516848.2:c.11177_11186del XP_011515150.1:p.Ser3726TrpfsTer?
XM_011516849.2:c.11102_11111del XP_011515151.1:p.Ser3701TrpfsTer?
XM_011516850.2:c.10802_10811del XP_011515152.1:p.Ser3601TrpfsTer?
XM_011516851.2:c.8066_8075del XP_011515153.1:p.Ser2689TrpfsTer?
XM_011516852.2:c.8066_8075del XP_011515154.1:p.Ser2689TrpfsTer?
XM_011516854.2:c.6959_6968del XP_011515156.1:p.Ser2320TrpfsTer?
XM_017013109.1:c.10985_10994del XP_016868598.1:p.Ser3662TrpfsTer?
XM_017013111.1:c.8066_8075del XP_016868600.1:p.Ser2689TrpfsTer?
XM_017013112.1:c.6737_6746del XP_016868601.1:p.Ser2246TrpfsTer?
XM_024447074.1:c.9965_9974del XP_024302842.1:p.Ser3322TrpfsTer?
NM_017890.5:c.11180_11189del MANE Plus Clinical NP_060360.3:p.Ser3727TrpfsTer?
NM_152564.5:c.11105_11114del MANE Select NP_689777.3:p.Ser3702TrpfsTer?
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