Canonical Allele Identifier: CA1805814339
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99699183_99699184delinsCA , CM000670.2:g.99699183_99699184delinsCA GRCh38
NC_000008.10:g.100711411_100711412delinsCA , CM000670.1:g.100711411_100711412delinsCA GRCh37
NC_000008.9:g.100780587_100780588delinsCA NCBI36
NG_007098.2:g.690918_690919delinsCA , LRG_351:g.690918_690919delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.6122-342_6122-341delinsCA ENSP00000507923.1:n.6122-342_6122-341delinsCA
ENST00000682358.1:n.6192-342_6192-341delinsCA
ENST00000683334.1:c.*1804-342_*1804-341delinsCA ENSP00000507369.1:n.*1804-342_*1804-341delinsCA
ENST00000357162.7:c.6047-342_6047-341delinsCA MANE Select ENSP00000349685.2:n.6047-342_6047-341delinsCA
ENST00000358544.7:c.6122-342_6122-341delinsCA MANE Plus Clinical ENSP00000351346.2:n.6122-342_6122-341delinsCA
ENST00000357162.6:c.6047-342_6047-341delinsCA ENSP00000349685.2:n.6047-342_6047-341delinsCA
ENST00000358544.6:c.6122-342_6122-341delinsCA ENSP00000351346.2:n.6122-342_6122-341delinsCA
NM_017890.4:c.6122-342_6122-341delinsCA , LRG_351t1:c.6122-342_6122-341delinsCA NP_060360.3:n.6122-342_6122-341delinsCA
NM_152564.4:c.6047-342_6047-341delinsCA , LRG_351t2:c.6047-342_6047-341delinsCA NP_689777.3:n.6047-342_6047-341delinsCA
XM_005250800.2:c.6122-342_6122-341delinsCA XP_005250857.1:n.6122-342_6122-341delinsCA
XM_005250801.3:c.6122-342_6122-341delinsCA XP_005250858.1:n.6122-342_6122-341delinsCA
XM_011516848.1:c.6119-342_6119-341delinsCA XP_011515150.1:n.6119-342_6119-341delinsCA
XM_011516849.1:c.6044-342_6044-341delinsCA XP_011515151.1:n.6044-342_6044-341delinsCA
XM_011516850.1:c.5744-342_5744-341delinsCA XP_011515152.1:n.5744-342_5744-341delinsCA
XM_011516851.1:c.3008-342_3008-341delinsCA XP_011515153.1:n.3008-342_3008-341delinsCA
XM_011516852.1:c.3008-342_3008-341delinsCA XP_011515154.1:n.3008-342_3008-341delinsCA
XM_011516853.1:c.6122-342_6122-341delinsCA XP_011515155.1:n.6122-342_6122-341delinsCA
XM_011516854.1:c.1901-342_1901-341delinsCA XP_011515156.1:n.1901-342_1901-341delinsCA
XM_005250800.3:c.6122-342_6122-341delinsCA XP_005250857.1:n.6122-342_6122-341delinsCA
XM_005250801.5:c.6122-342_6122-341delinsCA XP_005250858.1:n.6122-342_6122-341delinsCA
XM_011516848.2:c.6119-342_6119-341delinsCA XP_011515150.1:n.6119-342_6119-341delinsCA
XM_011516849.2:c.6044-342_6044-341delinsCA XP_011515151.1:n.6044-342_6044-341delinsCA
XM_011516850.2:c.5744-342_5744-341delinsCA XP_011515152.1:n.5744-342_5744-341delinsCA
XM_011516851.2:c.3008-342_3008-341delinsCA XP_011515153.1:n.3008-342_3008-341delinsCA
XM_011516852.2:c.3008-342_3008-341delinsCA XP_011515154.1:n.3008-342_3008-341delinsCA
XM_011516853.2:c.6122-342_6122-341delinsCA XP_011515155.1:n.6122-342_6122-341delinsCA
XM_011516854.2:c.1901-342_1901-341delinsCA XP_011515156.1:n.1901-342_1901-341delinsCA
XM_017013109.1:c.5927-342_5927-341delinsCA XP_016868598.1:n.5927-342_5927-341delinsCA
XM_017013111.1:c.3008-342_3008-341delinsCA XP_016868600.1:n.3008-342_3008-341delinsCA
XM_017013112.1:c.1679-342_1679-341delinsCA XP_016868601.1:n.1679-342_1679-341delinsCA
XM_024447074.1:c.4907-342_4907-341delinsCA XP_024302842.1:n.4907-342_4907-341delinsCA
XR_001745482.2:n.6083-342_6083-341delinsCA
NM_017890.5:c.6122-342_6122-341delinsCA MANE Plus Clinical NP_060360.3:n.6122-342_6122-341delinsCA
NM_152564.5:c.6047-342_6047-341delinsCA MANE Select NP_689777.3:n.6047-342_6047-341delinsCA