Canonical Allele Identifier: CA16041231
Gene: VPS13B HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371417
ClinVar RCV Id: RCV000411611
dbSNP Id: rs1057517255

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99275246delinsCC , CM000670.2:g.99275246delinsCC GRCh38
NC_000008.9:g.100356650delinsCC NCBI36
NC_000008.10:g.100287474delinsCC , CM000670.1:g.100287474delinsCC GRCh37
NG_007098.2:g.266981delinsCC , LRG_351:g.266981delinsCC

Transcript Alleles

HGVS Amino-acid change
ENST00000357162.6:c.2816delinsCC ENSP00000349685.2:p.His939ProfsTer17
ENST00000358544.6:c.2816delinsCC ENSP00000351346.2:p.His939ProfsTer17
ENST00000496144.5:c.2816delinsCC ENSP00000430900.1:p.His939ProfsTer17
ENST00000522802.5:n.38delinsCC
NM_017890.4:c.2816delinsCC , LRG_351t1:c.2816delinsCC NP_060360.3:p.His939ProfsTer17
NM_152564.4:c.2816delinsCC , LRG_351t2:c.2816delinsCC NP_689777.3:p.His939ProfsTer17
XM_005250800.2:c.2816delinsCC XP_005250857.1:p.His939ProfsTer17
XM_005250801.3:c.2816delinsCC XP_005250858.1:p.His939ProfsTer17
XM_006716510.2:c.2816delinsCC XP_006716573.1:p.His939ProfsTer17
XM_006716511.2:c.2816delinsCC XP_006716574.1:p.His939ProfsTer30
XM_011516848.1:c.2816delinsCC XP_011515150.1:p.His939ProfsTer17
XM_011516849.1:c.2816delinsCC XP_011515151.1:p.His939ProfsTer17
XM_011516850.1:c.2438delinsCC XP_011515152.1:p.His813ProfsTer17
XM_011516853.1:c.2816delinsCC XP_011515155.1:p.His939ProfsTer17
XM_011516855.1:c.2816delinsCC XP_011515157.1:p.His939ProfsTer17
XM_011516856.1:c.2816delinsCC XP_011515158.1:p.His939ProfsTer17
XM_011516857.1:c.2816delinsCC XP_011515159.1:p.His939ProfsTer17
XM_011516858.1:c.2816delinsCC XP_011515160.1:p.His939ProfsTer17
XM_011516859.1:c.2816delinsCC XP_011515161.1:p.His939ProfsTer17
XM_011516860.1:c.2816delinsCC XP_011515162.1:p.His939ProfsTer17
XM_011516861.1:c.2816delinsCC XP_011515163.1:p.His939ProfsTer17
XM_011516862.1:c.2816delinsCC XP_011515164.1:p.His939ProfsTer19
XM_011516863.1:c.2816delinsCC XP_011515165.1:p.His939ProfsTer24
XM_011516864.1:c.2816delinsCC XP_011515166.1:p.His939ProfsTer11
XR_928301.1:n.2919delinsCC
XR_928302.1:n.2919delinsCC
XR_928303.1:n.2919delinsCC
XR_928304.1:n.2919delinsCC