Canonical Allele Identifier: CA16041260
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 370840
ClinVar RCV Id: RCV000411468
dbSNP Id: rs1057516807

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99823830_99823832del , CM000670.2:g.99823830_99823832del GRCh38
NC_000008.10:g.100836058_100836060del , CM000670.1:g.100836058_100836060del GRCh37
NC_000008.9:g.100905234_100905236del NCBI36
NG_007098.2:g.815565_815567del , LRG_351:g.815565_815567del

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.9259-2_9259del
ENST00000682358.1:n.9329-2_9329del
ENST00000683334.1:c.*4941-2_*4941del
ENST00000357162.7:c.9184-2_9184del
ENST00000358544.7:c.9259-2_9259del
ENST00000357162.6:c.9184-2_9184del
ENST00000358544.6:c.9259-2_9259del
NM_017890.4:c.9259-2_9259del , LRG_351t1:c.9259-2_9259del
NM_152564.4:c.9184-2_9184del , LRG_351t2:c.9184-2_9184del
XM_005250800.2:c.9259-2_9259del
XM_005250801.3:c.9259-2_9259del
XM_011516848.1:c.9256-2_9256del
XM_011516849.1:c.9181-2_9181del
XM_011516850.1:c.8881-2_8881del
XM_011516851.1:c.6145-2_6145del
XM_011516852.1:c.6145-2_6145del
XM_011516854.1:c.5038-2_5038del
XM_005250800.3:c.9259-2_9259del
XM_005250801.5:c.9259-2_9259del
XM_011516848.2:c.9256-2_9256del
XM_011516849.2:c.9181-2_9181del
XM_011516850.2:c.8881-2_8881del
XM_011516851.2:c.6145-2_6145del
XM_011516852.2:c.6145-2_6145del
XM_011516854.2:c.5038-2_5038del
XM_017013109.1:c.9064-2_9064del
XM_017013111.1:c.6145-2_6145del
XM_017013112.1:c.4816-2_4816del
XM_024447074.1:c.8044-2_8044del
NM_017890.5:c.9259-2_9259del
NM_152564.5:c.9184-2_9184del