Canonical Allele Identifier: CA2781476339
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99699141_99699142insC , CM000670.2:g.99699141_99699142insC GRCh38
NC_000008.10:g.100711369_100711370insC , CM000670.1:g.100711369_100711370insC GRCh37
NC_000008.9:g.100780545_100780546insC NCBI36
NG_007098.2:g.690876_690877insC , LRG_351:g.690876_690877insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.6122-384_6122-383insC ENSP00000507923.1:n.6122-384_6122-383insC
ENST00000682358.1:n.6192-384_6192-383insC
ENST00000683334.1:c.*1804-384_*1804-383insC ENSP00000507369.1:n.*1804-384_*1804-383insC
ENST00000357162.7:c.6047-384_6047-383insC MANE Select ENSP00000349685.2:n.6047-384_6047-383insC
ENST00000358544.7:c.6122-384_6122-383insC MANE Plus Clinical ENSP00000351346.2:n.6122-384_6122-383insC
ENST00000357162.6:c.6047-384_6047-383insC ENSP00000349685.2:n.6047-384_6047-383insC
ENST00000358544.6:c.6122-384_6122-383insC ENSP00000351346.2:n.6122-384_6122-383insC
NM_017890.4:c.6122-384_6122-383insC , LRG_351t1:c.6122-384_6122-383insC NP_060360.3:n.6122-384_6122-383insC
NM_152564.4:c.6047-384_6047-383insC , LRG_351t2:c.6047-384_6047-383insC NP_689777.3:n.6047-384_6047-383insC
XM_005250800.2:c.6122-384_6122-383insC XP_005250857.1:n.6122-384_6122-383insC
XM_005250801.3:c.6122-384_6122-383insC XP_005250858.1:n.6122-384_6122-383insC
XM_011516848.1:c.6119-384_6119-383insC XP_011515150.1:n.6119-384_6119-383insC
XM_011516849.1:c.6044-384_6044-383insC XP_011515151.1:n.6044-384_6044-383insC
XM_011516850.1:c.5744-384_5744-383insC XP_011515152.1:n.5744-384_5744-383insC
XM_011516851.1:c.3008-384_3008-383insC XP_011515153.1:n.3008-384_3008-383insC
XM_011516852.1:c.3008-384_3008-383insC XP_011515154.1:n.3008-384_3008-383insC
XM_011516853.1:c.6122-384_6122-383insC XP_011515155.1:n.6122-384_6122-383insC
XM_011516854.1:c.1901-384_1901-383insC XP_011515156.1:n.1901-384_1901-383insC
XM_005250800.3:c.6122-384_6122-383insC XP_005250857.1:n.6122-384_6122-383insC
XM_005250801.5:c.6122-384_6122-383insC XP_005250858.1:n.6122-384_6122-383insC
XM_011516848.2:c.6119-384_6119-383insC XP_011515150.1:n.6119-384_6119-383insC
XM_011516849.2:c.6044-384_6044-383insC XP_011515151.1:n.6044-384_6044-383insC
XM_011516850.2:c.5744-384_5744-383insC XP_011515152.1:n.5744-384_5744-383insC
XM_011516851.2:c.3008-384_3008-383insC XP_011515153.1:n.3008-384_3008-383insC
XM_011516852.2:c.3008-384_3008-383insC XP_011515154.1:n.3008-384_3008-383insC
XM_011516853.2:c.6122-384_6122-383insC XP_011515155.1:n.6122-384_6122-383insC
XM_011516854.2:c.1901-384_1901-383insC XP_011515156.1:n.1901-384_1901-383insC
XM_017013109.1:c.5927-384_5927-383insC XP_016868598.1:n.5927-384_5927-383insC
XM_017013111.1:c.3008-384_3008-383insC XP_016868600.1:n.3008-384_3008-383insC
XM_017013112.1:c.1679-384_1679-383insC XP_016868601.1:n.1679-384_1679-383insC
XM_024447074.1:c.4907-384_4907-383insC XP_024302842.1:n.4907-384_4907-383insC
XR_001745482.2:n.6083-384_6083-383insC
NM_017890.5:c.6122-384_6122-383insC MANE Plus Clinical NP_060360.3:n.6122-384_6122-383insC
NM_152564.5:c.6047-384_6047-383insC MANE Select NP_689777.3:n.6047-384_6047-383insC