Canonical Allele Identifier: CA4822853

Gene: VPS13B

Linked Data

• dbSNP Id: rs777275895
• ExAC: 8:100182264 TAGATA / T
• MyVariant Identifiers: chr8:g.100182265_100182269del (hg19) ; chr8:g.99170037_99170041del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99170037_99170041del , CM000670.2:g.99170037_99170041del	GRCh38
NC_000008.10:g.100182265_100182269del , CM000670.1:g.100182265_100182269del	GRCh37
NC_000008.9:g.100251441_100251445del	NCBI36
NG_007098.2:g.161772_161776del , LRG_351:g.161772_161776del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355155.6:c.2209-2_2211del
ENST00000682145.1:n.2086-2_2088del
ENST00000682153.1:c.2209-2_2211del
ENST00000682234.1:c.2209-2_2211del
ENST00000682358.1:n.2279-2_2281del
ENST00000682853.1:n.2429-2_2431del
ENST00000683334.1:c.2209-2_2211del
ENST00000683486.1:n.2275-2_2277del
ENST00000683619.1:n.2381-2_2383del
ENST00000683869.1:n.2290-2_2292del
ENST00000684308.1:n.2275-2_2277del
ENST00000357162.7:c.2209-2_2211del
ENST00000358544.7:c.2209-2_2211del
ENST00000355155.5:c.2209-2_2211del
ENST00000357162.6:c.2209-2_2211del
ENST00000358544.6:c.2209-2_2211del
ENST00000496144.5:c.2209-2_2211del
ENST00000521932.1:n.116-2_118del
NM_015243.2:c.2209-2_2211del , LRG_351t3:c.2209-2_2211del
NM_017890.4:c.2209-2_2211del , LRG_351t1:c.2209-2_2211del
NM_152564.4:c.2209-2_2211del , LRG_351t2:c.2209-2_2211del
XM_005250800.2:c.2209-2_2211del
XM_005250801.3:c.2209-2_2211del
XM_006716510.2:c.2209-2_2211del
XM_006716511.2:c.2209-2_2211del
XM_011516848.1:c.2209-2_2211del
XM_011516849.1:c.2209-2_2211del
XM_011516850.1:c.1831-2_1833del
XM_011516853.1:c.2209-2_2211del
XM_011516855.1:c.2209-2_2211del
XM_011516856.1:c.2209-2_2211del
XM_011516857.1:c.2209-2_2211del
XM_011516858.1:c.2209-2_2211del
XM_011516859.1:c.2209-2_2211del
XM_011516860.1:c.2209-2_2211del
XM_011516861.1:c.2209-2_2211del
XM_011516862.1:c.2209-2_2211del
XM_011516863.1:c.2209-2_2211del
XM_011516864.1:c.2209-2_2211del
XM_011516865.1:c.2209-2_2211del
XM_011516866.1:c.2209-2_2211del
XR_928301.1:n.2312-2_2314del
XR_928302.1:n.2312-2_2314del
XR_928303.1:n.2312-2_2314del
XR_928304.1:n.2312-2_2314del
XM_005250800.3:c.2209-2_2211del
XM_005250801.5:c.2209-2_2211del
XM_006716510.3:c.2209-2_2211del
XM_011516848.2:c.2209-2_2211del
XM_011516849.2:c.2209-2_2211del
XM_011516850.2:c.1831-2_1833del
XM_011516853.2:c.2209-2_2211del
XM_011516859.2:c.2209-2_2211del
XM_011516866.2:c.2209-2_2211del
XM_017013109.1:c.2014-2_2016del
XM_024447074.1:c.994-2_996del
XM_024447075.1:c.2209-2_2211del
XR_001745481.1:n.2312-2_2314del
XR_001745482.2:n.2312-2_2314del
XR_001745484.2:n.2312-2_2314del
XR_002956601.1:n.2312-2_2314del
XR_002956602.1:n.2312-2_2314del
XR_928302.2:n.2312-2_2314del
NM_015243.3:c.2209-2_2211del
NM_017890.5:c.2209-2_2211del
NM_152564.5:c.2209-2_2211del