Canonical Allele Identifier: CA16041278
Gene: VPS13B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99871527del , CM000670.2:g.99871527del GRCh38
NC_000008.10:g.100883755del , CM000670.1:g.100883755del GRCh37
NC_000008.9:g.100952931del NCBI36
NG_007098.2:g.863262del , LRG_351:g.863262del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.*1304del ENSP00000507923.1:n.*1304del
ENST00000682358.1:n.12280del
ENST00000683334.1:c.*7332del ENSP00000507369.1:n.*7332del
ENST00000357162.7:c.11575del MANE Select ENSP00000349685.2:p.His3859MetfsTer7
ENST00000358544.7:c.11650del MANE Plus Clinical ENSP00000351346.2:p.His3884MetfsTer7
ENST00000357162.6:c.11575del ENSP00000349685.2:p.His3859MetfsTer7
ENST00000358544.6:c.11650del ENSP00000351346.2:p.His3884MetfsTer7
ENST00000493587.1:n.1152del
NM_017890.4:c.11650del , LRG_351t1:c.11650del NP_060360.3:p.His3884MetfsTer7
NM_152564.4:c.11575del , LRG_351t2:c.11575del NP_689777.3:p.His3859MetfsTer7
XM_005250800.2:c.11650del XP_005250857.1:p.His3884MetfsTer7
XM_005250801.3:c.11650del XP_005250858.1:p.His3884MetfsTer7
XM_011516848.1:c.11647del XP_011515150.1:p.His3883MetfsTer7
XM_011516849.1:c.11572del XP_011515151.1:p.His3858MetfsTer7
XM_011516850.1:c.11272del XP_011515152.1:p.His3758MetfsTer7
XM_011516851.1:c.8536del XP_011515153.1:p.His2846MetfsTer7
XM_011516852.1:c.8536del XP_011515154.1:p.His2846MetfsTer7
XM_011516854.1:c.7429del XP_011515156.1:p.His2477MetfsTer7
XM_005250800.3:c.11650del XP_005250857.1:p.His3884MetfsTer7
XM_005250801.5:c.11650del XP_005250858.1:p.His3884MetfsTer7
XM_011516848.2:c.11647del XP_011515150.1:p.His3883MetfsTer7
XM_011516849.2:c.11572del XP_011515151.1:p.His3858MetfsTer7
XM_011516850.2:c.11272del XP_011515152.1:p.His3758MetfsTer7
XM_011516851.2:c.8536del XP_011515153.1:p.His2846MetfsTer7
XM_011516852.2:c.8536del XP_011515154.1:p.His2846MetfsTer7
XM_011516854.2:c.7429del XP_011515156.1:p.His2477MetfsTer7
XM_017013109.1:c.11455del XP_016868598.1:p.His3819MetfsTer7
XM_017013111.1:c.8536del XP_016868600.1:p.His2846MetfsTer7
XM_017013112.1:c.7207del XP_016868601.1:p.His2403MetfsTer7
XM_024447074.1:c.10435del XP_024302842.1:p.His3479MetfsTer7
NM_017890.5:c.11650del MANE Plus Clinical NP_060360.3:p.His3884MetfsTer7
NM_152564.5:c.11575del MANE Select NP_689777.3:p.His3859MetfsTer7
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