Canonical Allele Identifier: CA183025196
Gene: VPS13B HGNC NCBI

Linked Data

dbSNP Id: rs763662943

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99699163_99699173delinsAGGACAT , CM000670.2:g.99699163_99699173delinsAGGACAT GRCh38
NC_000008.10:g.100711391_100711401delinsAGGACAT , CM000670.1:g.100711391_100711401delinsAGGACAT GRCh37
NC_000008.9:g.100780567_100780577delinsAGGACAT NCBI36
NG_007098.2:g.690898_690908delinsAGGACAT , LRG_351:g.690898_690908delinsAGGACAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.6122-362_6122-352delinsAGGACAT ENSP00000507923.1:n.6122-362_6122-352delinsAGGACAT
ENST00000682358.1:n.6192-362_6192-352delinsAGGACAT
ENST00000683334.1:c.*1804-362_*1804-352delinsAGGACAT ENSP00000507369.1:n.*1804-362_*1804-352delinsAGGACAT
ENST00000357162.7:c.6047-362_6047-352delinsAGGACAT MANE Select ENSP00000349685.2:n.6047-362_6047-352delinsAGGACAT
ENST00000358544.7:c.6122-362_6122-352delinsAGGACAT MANE Plus Clinical ENSP00000351346.2:n.6122-362_6122-352delinsAGGACAT
ENST00000357162.6:c.6047-362_6047-352delinsAGGACAT ENSP00000349685.2:n.6047-362_6047-352delinsAGGACAT
ENST00000358544.6:c.6122-362_6122-352delinsAGGACAT ENSP00000351346.2:n.6122-362_6122-352delinsAGGACAT
NM_017890.4:c.6122-362_6122-352delinsAGGACAT , LRG_351t1:c.6122-362_6122-352delinsAGGACAT NP_060360.3:n.6122-362_6122-352delinsAGGACAT
NM_152564.4:c.6047-362_6047-352delinsAGGACAT , LRG_351t2:c.6047-362_6047-352delinsAGGACAT NP_689777.3:n.6047-362_6047-352delinsAGGACAT
XM_005250800.2:c.6122-362_6122-352delinsAGGACAT XP_005250857.1:n.6122-362_6122-352delinsAGGACAT
XM_005250801.3:c.6122-362_6122-352delinsAGGACAT XP_005250858.1:n.6122-362_6122-352delinsAGGACAT
XM_011516848.1:c.6119-362_6119-352delinsAGGACAT XP_011515150.1:n.6119-362_6119-352delinsAGGACAT
XM_011516849.1:c.6044-362_6044-352delinsAGGACAT XP_011515151.1:n.6044-362_6044-352delinsAGGACAT
XM_011516850.1:c.5744-362_5744-352delinsAGGACAT XP_011515152.1:n.5744-362_5744-352delinsAGGACAT
XM_011516851.1:c.3008-362_3008-352delinsAGGACAT XP_011515153.1:n.3008-362_3008-352delinsAGGACAT
XM_011516852.1:c.3008-362_3008-352delinsAGGACAT XP_011515154.1:n.3008-362_3008-352delinsAGGACAT
XM_011516853.1:c.6122-362_6122-352delinsAGGACAT XP_011515155.1:n.6122-362_6122-352delinsAGGACAT
XM_011516854.1:c.1901-362_1901-352delinsAGGACAT XP_011515156.1:n.1901-362_1901-352delinsAGGACAT
XM_005250800.3:c.6122-362_6122-352delinsAGGACAT XP_005250857.1:n.6122-362_6122-352delinsAGGACAT
XM_005250801.5:c.6122-362_6122-352delinsAGGACAT XP_005250858.1:n.6122-362_6122-352delinsAGGACAT
XM_011516848.2:c.6119-362_6119-352delinsAGGACAT XP_011515150.1:n.6119-362_6119-352delinsAGGACAT
XM_011516849.2:c.6044-362_6044-352delinsAGGACAT XP_011515151.1:n.6044-362_6044-352delinsAGGACAT
XM_011516850.2:c.5744-362_5744-352delinsAGGACAT XP_011515152.1:n.5744-362_5744-352delinsAGGACAT
XM_011516851.2:c.3008-362_3008-352delinsAGGACAT XP_011515153.1:n.3008-362_3008-352delinsAGGACAT
XM_011516852.2:c.3008-362_3008-352delinsAGGACAT XP_011515154.1:n.3008-362_3008-352delinsAGGACAT
XM_011516853.2:c.6122-362_6122-352delinsAGGACAT XP_011515155.1:n.6122-362_6122-352delinsAGGACAT
XM_011516854.2:c.1901-362_1901-352delinsAGGACAT XP_011515156.1:n.1901-362_1901-352delinsAGGACAT
XM_017013109.1:c.5927-362_5927-352delinsAGGACAT XP_016868598.1:n.5927-362_5927-352delinsAGGACAT
XM_017013111.1:c.3008-362_3008-352delinsAGGACAT XP_016868600.1:n.3008-362_3008-352delinsAGGACAT
XM_017013112.1:c.1679-362_1679-352delinsAGGACAT XP_016868601.1:n.1679-362_1679-352delinsAGGACAT
XM_024447074.1:c.4907-362_4907-352delinsAGGACAT XP_024302842.1:n.4907-362_4907-352delinsAGGACAT
XR_001745482.2:n.6083-362_6083-352delinsAGGACAT
NM_017890.5:c.6122-362_6122-352delinsAGGACAT MANE Plus Clinical NP_060360.3:n.6122-362_6122-352delinsAGGACAT
NM_152564.5:c.6047-362_6047-352delinsAGGACAT MANE Select NP_689777.3:n.6047-362_6047-352delinsAGGACAT