Canonical Allele Identifier: CA2781463997
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99275254_99275260del , CM000670.2:g.99275254_99275260del GRCh38
NC_000008.10:g.100287482_100287488del , CM000670.1:g.100287482_100287488del GRCh37
NC_000008.9:g.100356658_100356664del NCBI36
NG_007098.2:g.266989_266995del , LRG_351:g.266989_266995del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355155.6:c.2824_2824+6del
ENST00000682145.1:n.2701_2701+6del
ENST00000682153.1:c.2824_2824+6del
ENST00000682234.1:c.2824_2824+6del
ENST00000682358.1:n.2894_2894+6del
ENST00000683334.1:c.2824_2824+6del
ENST00000683486.1:n.2890_2890+6del
ENST00000683619.1:n.2996_2996+6del
ENST00000683869.1:n.2905_2905+6del
ENST00000357162.7:c.2824_2824+6del
ENST00000358544.7:c.2824_2824+6del
ENST00000357162.6:c.2824_2824+6del
ENST00000358544.6:c.2824_2824+6del
ENST00000496144.5:c.2824_2824+6del
ENST00000522802.5:n.46_46+6del
NM_017890.4:c.2824_2824+6del , LRG_351t1:c.2824_2824+6del
NM_152564.4:c.2824_2824+6del , LRG_351t2:c.2824_2824+6del
XM_005250800.2:c.2824_2824+6del
XM_005250801.3:c.2824_2824+6del
XM_006716510.2:c.2824_2824+6del
XM_006716511.2:c.2824_2824+6del
XM_011516848.1:c.2824_2824+6del
XM_011516849.1:c.2824_2824+6del
XM_011516850.1:c.2446_2446+6del
XM_011516853.1:c.2824_2824+6del
XM_011516855.1:c.2824_2824+6del
XM_011516856.1:c.2824_2824+6del
XM_011516857.1:c.2824_2824+6del
XM_011516858.1:c.2824_2824+6del
XM_011516859.1:c.2824_2824+6del
XM_011516860.1:c.2824_2824+6del
XM_011516861.1:c.2824_2824+6del
XM_011516862.1:c.2824_2824+6del
XM_011516863.1:c.2824_2824+6del
XM_011516864.1:c.2824_2824+6del
XR_928301.1:n.2927_2927+6del
XR_928302.1:n.2927_2927+6del
XR_928303.1:n.2927_2927+6del
XR_928304.1:n.2927_2927+6del
XM_005250800.3:c.2824_2824+6del
XM_005250801.5:c.2824_2824+6del
XM_006716510.3:c.2824_2824+6del
XM_011516848.2:c.2824_2824+6del
XM_011516849.2:c.2824_2824+6del
XM_011516850.2:c.2446_2446+6del
XM_011516853.2:c.2824_2824+6del
XM_011516859.2:c.2824_2824+6del
XM_017013109.1:c.2629_2629+6del
XM_024447074.1:c.1609_1609+6del
XM_024447075.1:c.2824_2824+6del
XR_001745481.1:n.2927_2927+6del
XR_001745482.2:n.2927_2927+6del
XR_001745484.2:n.2927_2927+6del
XR_002956601.1:n.2927_2927+6del
XR_002956602.1:n.2927_2927+6del
XR_928302.2:n.2927_2927+6del
NM_017890.5:c.2824_2824+6del
NM_152564.5:c.2824_2824+6del