Canonical Allele Identifier: CA16618724
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 419248
ClinVar RCV Id: RCV000483748
dbSNP Id: rs1064793747
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99861855_99861856delinsT , CM000670.2:g.99861855_99861856delinsT GRCh38
NC_000008.10:g.100874083_100874084delinsT , CM000670.1:g.100874083_100874084delinsT GRCh37
NC_000008.9:g.100943259_100943260delinsT NCBI36
NG_007098.2:g.853590_853591delinsT , LRG_351:g.853590_853591delinsT

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.*293_*294delinsT ENSP00000507923.1:n.*293_*294delinsT
ENST00000682358.1:n.11269_11270delinsT
ENST00000683334.1:c.*6881_*6882delinsT ENSP00000507369.1:n.*6881_*6882delinsT
ENST00000357162.7:c.11124_11125delinsT MANE Select ENSP00000349685.2:p.Asn3709ThrfsTer?
ENST00000358544.7:c.11199_11200delinsT MANE Plus Clinical ENSP00000351346.2:p.Asn3734ThrfsTer?
ENST00000357162.6:c.11124_11125delinsT ENSP00000349685.2:p.Asn3709ThrfsTer?
ENST00000358544.6:c.11199_11200delinsT ENSP00000351346.2:p.Asn3734ThrfsTer?
NM_017890.4:c.11199_11200delinsT , LRG_351t1:c.11199_11200delinsT NP_060360.3:p.Asn3734ThrfsTer?
NM_152564.4:c.11124_11125delinsT , LRG_351t2:c.11124_11125delinsT NP_689777.3:p.Asn3709ThrfsTer?
XM_005250800.2:c.11199_11200delinsT XP_005250857.1:p.Asn3734ThrfsTer?
XM_005250801.3:c.11199_11200delinsT XP_005250858.1:p.Asn3734ThrfsTer?
XM_011516848.1:c.11196_11197delinsT XP_011515150.1:p.Asn3733ThrfsTer?
XM_011516849.1:c.11121_11122delinsT XP_011515151.1:p.Asn3708ThrfsTer?
XM_011516850.1:c.10821_10822delinsT XP_011515152.1:p.Asn3608ThrfsTer?
XM_011516851.1:c.8085_8086delinsT XP_011515153.1:p.Asn2696ThrfsTer?
XM_011516852.1:c.8085_8086delinsT XP_011515154.1:p.Asn2696ThrfsTer?
XM_011516854.1:c.6978_6979delinsT XP_011515156.1:p.Asn2327ThrfsTer?
XM_005250800.3:c.11199_11200delinsT XP_005250857.1:p.Asn3734ThrfsTer?
XM_005250801.5:c.11199_11200delinsT XP_005250858.1:p.Asn3734ThrfsTer?
XM_011516848.2:c.11196_11197delinsT XP_011515150.1:p.Asn3733ThrfsTer?
XM_011516849.2:c.11121_11122delinsT XP_011515151.1:p.Asn3708ThrfsTer?
XM_011516850.2:c.10821_10822delinsT XP_011515152.1:p.Asn3608ThrfsTer?
XM_011516851.2:c.8085_8086delinsT XP_011515153.1:p.Asn2696ThrfsTer?
XM_011516852.2:c.8085_8086delinsT XP_011515154.1:p.Asn2696ThrfsTer?
XM_011516854.2:c.6978_6979delinsT XP_011515156.1:p.Asn2327ThrfsTer?
XM_017013109.1:c.11004_11005delinsT XP_016868598.1:p.Asn3669ThrfsTer?
XM_017013111.1:c.8085_8086delinsT XP_016868600.1:p.Asn2696ThrfsTer?
XM_017013112.1:c.6756_6757delinsT XP_016868601.1:p.Asn2253ThrfsTer?
XM_024447074.1:c.9984_9985delinsT XP_024302842.1:p.Asn3329ThrfsTer?
NM_017890.5:c.11199_11200delinsT MANE Plus Clinical NP_060360.3:p.Asn3734ThrfsTer?
NM_152564.5:c.11124_11125delinsT MANE Select NP_689777.3:p.Asn3709ThrfsTer?
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