Canonical Allele Identifier: CA1805814093
Gene: VPS13B HGNC NCBI

Linked Data

dbSNP Id: rs1832160981

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99699131_99699136del , CM000670.2:g.99699131_99699136del GRCh38
NC_000008.10:g.100711359_100711364del , CM000670.1:g.100711359_100711364del GRCh37
NC_000008.9:g.100780535_100780540del NCBI36
NG_007098.2:g.690866_690871del , LRG_351:g.690866_690871del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.6122-394_6122-389del ENSP00000507923.1:n.6122-394_6122-389del
ENST00000682358.1:n.6192-394_6192-389del
ENST00000683334.1:c.*1804-394_*1804-389del ENSP00000507369.1:n.*1804-394_*1804-389del
ENST00000357162.7:c.6047-394_6047-389del MANE Select ENSP00000349685.2:n.6047-394_6047-389del
ENST00000358544.7:c.6122-394_6122-389del MANE Plus Clinical ENSP00000351346.2:n.6122-394_6122-389del
ENST00000357162.6:c.6047-394_6047-389del ENSP00000349685.2:n.6047-394_6047-389del
ENST00000358544.6:c.6122-394_6122-389del ENSP00000351346.2:n.6122-394_6122-389del
NM_017890.4:c.6122-394_6122-389del , LRG_351t1:c.6122-394_6122-389del NP_060360.3:n.6122-394_6122-389del
NM_152564.4:c.6047-394_6047-389del , LRG_351t2:c.6047-394_6047-389del NP_689777.3:n.6047-394_6047-389del
XM_005250800.2:c.6122-394_6122-389del XP_005250857.1:n.6122-394_6122-389del
XM_005250801.3:c.6122-394_6122-389del XP_005250858.1:n.6122-394_6122-389del
XM_011516848.1:c.6119-394_6119-389del XP_011515150.1:n.6119-394_6119-389del
XM_011516849.1:c.6044-394_6044-389del XP_011515151.1:n.6044-394_6044-389del
XM_011516850.1:c.5744-394_5744-389del XP_011515152.1:n.5744-394_5744-389del
XM_011516851.1:c.3008-394_3008-389del XP_011515153.1:n.3008-394_3008-389del
XM_011516852.1:c.3008-394_3008-389del XP_011515154.1:n.3008-394_3008-389del
XM_011516853.1:c.6122-394_6122-389del XP_011515155.1:n.6122-394_6122-389del
XM_011516854.1:c.1901-394_1901-389del XP_011515156.1:n.1901-394_1901-389del
XM_005250800.3:c.6122-394_6122-389del XP_005250857.1:n.6122-394_6122-389del
XM_005250801.5:c.6122-394_6122-389del XP_005250858.1:n.6122-394_6122-389del
XM_011516848.2:c.6119-394_6119-389del XP_011515150.1:n.6119-394_6119-389del
XM_011516849.2:c.6044-394_6044-389del XP_011515151.1:n.6044-394_6044-389del
XM_011516850.2:c.5744-394_5744-389del XP_011515152.1:n.5744-394_5744-389del
XM_011516851.2:c.3008-394_3008-389del XP_011515153.1:n.3008-394_3008-389del
XM_011516852.2:c.3008-394_3008-389del XP_011515154.1:n.3008-394_3008-389del
XM_011516853.2:c.6122-394_6122-389del XP_011515155.1:n.6122-394_6122-389del
XM_011516854.2:c.1901-394_1901-389del XP_011515156.1:n.1901-394_1901-389del
XM_017013109.1:c.5927-394_5927-389del XP_016868598.1:n.5927-394_5927-389del
XM_017013111.1:c.3008-394_3008-389del XP_016868600.1:n.3008-394_3008-389del
XM_017013112.1:c.1679-394_1679-389del XP_016868601.1:n.1679-394_1679-389del
XM_024447074.1:c.4907-394_4907-389del XP_024302842.1:n.4907-394_4907-389del
XR_001745482.2:n.6083-394_6083-389del
NM_017890.5:c.6122-394_6122-389del MANE Plus Clinical NP_060360.3:n.6122-394_6122-389del
NM_152564.5:c.6047-394_6047-389del MANE Select NP_689777.3:n.6047-394_6047-389del