Canonical Allele Identifier: CA2688057012

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99013341-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99013342del , CM000670.2:g.99013342del	GRCh38
NC_000008.10:g.100025570del , CM000670.1:g.100025570del	GRCh37
NC_000008.9:g.100094746del	NCBI36
NG_007098.2:g.5077del , LRG_351:g.5077del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355155.6:c.-35del	ENSP00000347281.2:n.-35del
ENST00000682145.1:n.35del
ENST00000682153.1:c.-35del	ENSP00000507923.1:n.-35del
ENST00000682234.1:c.-35del	ENSP00000508225.1:n.-35del
ENST00000682358.1:n.36del
ENST00000682806.1:n.67del
ENST00000682853.1:n.71del
ENST00000683334.1:c.-35del	ENSP00000507369.1:n.-35del
ENST00000683486.1:n.32del
ENST00000683619.1:n.69del
ENST00000683869.1:n.47del
ENST00000684269.1:n.67del
ENST00000684308.1:n.32del
ENST00000357162.7:c.-35del MANE Select	ENSP00000349685.2:n.-35del
ENST00000358544.7:c.-35del MANE Plus Clinical	ENSP00000351346.2:n.-35del
ENST00000355155.5:c.-35del	ENSP00000347281.1:n.-35del
ENST00000357162.6:c.-35del	ENSP00000349685.2:n.-35del
ENST00000358544.6:c.-35del	ENSP00000351346.2:n.-35del
ENST00000441350.2:c.-35del	ENSP00000398472.2:n.-35del
ENST00000496144.5:c.-35del	ENSP00000430900.1:n.-35del
NM_015243.2:c.-35del , LRG_351t3:c.-35del	NP_056058.2:n.-35del
NM_017890.4:c.-35del , LRG_351t1:c.-35del	NP_060360.3:n.-35del
NM_152564.4:c.-35del , LRG_351t2:c.-35del	NP_689777.3:n.-35del
NM_181661.2:c.-35del , LRG_351t4:c.-35del	NP_858047.2:n.-35del
NR_047582.1:n.77del
XM_005250800.2:c.-357del	XP_005250857.1:n.-357del
XM_005250801.3:c.-30+71del	XP_005250858.1:n.-30+71del
XM_006716510.2:c.-35del	XP_006716573.1:n.-35del
XM_006716511.2:c.-35del	XP_006716574.1:n.-35del
XM_011516848.1:c.-35del	XP_011515150.1:n.-35del
XM_011516849.1:c.-35del	XP_011515151.1:n.-35del
XM_011516853.1:c.-35del	XP_011515155.1:n.-35del
XM_011516855.1:c.-35del	XP_011515157.1:n.-35del
XM_011516856.1:c.-35del	XP_011515158.1:n.-35del
XM_011516857.1:c.-35del	XP_011515159.1:n.-35del
XM_011516858.1:c.-35del	XP_011515160.1:n.-35del
XM_011516859.1:c.-35del	XP_011515161.1:n.-35del
XM_011516860.1:c.-35del	XP_011515162.1:n.-35del
XM_011516861.1:c.-35del	XP_011515163.1:n.-35del
XM_011516862.1:c.-35del	XP_011515164.1:n.-35del
XM_011516863.1:c.-35del	XP_011515165.1:n.-35del
XM_011516864.1:c.-35del	XP_011515166.1:n.-35del
XM_011516865.1:c.-35del	XP_011515167.1:n.-35del
XM_011516866.1:c.-35del	XP_011515168.1:n.-35del
XR_928301.1:n.69del
XR_928302.1:n.69del
XR_928303.1:n.69del
XR_928304.1:n.69del
XM_005250800.3:c.-357del	XP_005250857.1:n.-357del
XM_005250801.5:c.-30+71del	XP_005250858.1:n.-30+71del
XM_006716510.3:c.-35del	XP_006716573.1:n.-35del
XM_011516848.2:c.-35del	XP_011515150.1:n.-35del
XM_011516849.2:c.-35del	XP_011515151.1:n.-35del
XM_011516853.2:c.-35del	XP_011515155.1:n.-35del
XM_011516859.2:c.-35del	XP_011515161.1:n.-35del
XM_011516866.2:c.-35del	XP_011515168.1:n.-35del
XM_017013109.1:c.-35del	XP_016868598.1:n.-35del
XM_024447074.1:c.-1362del	XP_024302842.1:n.-1362del
XM_024447075.1:c.-35del	XP_024302843.1:n.-35del
XR_001745481.1:n.69del
XR_001745482.2:n.69del
XR_001745484.2:n.69del
XR_002956601.1:n.69del
XR_002956602.1:n.69del
XR_928302.2:n.69del
NM_015243.3:c.-35del	NP_056058.2:n.-35del
NM_017890.5:c.-35del MANE Plus Clinical	NP_060360.3:n.-35del
NM_152564.5:c.-35del MANE Select	NP_689777.3:n.-35del
NM_181661.3:c.-35del	NP_858047.2:n.-35del
NR_047582.2:n.69del