Canonical Allele Identifier: CA2688060233

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99121057-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99121057_99121058insA , CM000670.2:g.99121057_99121058insA	GRCh38
NC_000008.10:g.100133285_100133286insA , CM000670.1:g.100133285_100133286insA	GRCh37
NC_000008.9:g.100202461_100202462insA	NCBI36
NG_007098.2:g.112792_112793insA , LRG_351:g.112792_112793insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355155.6:c.938-120_938-119insA	ENSP00000347281.2:n.938-120_938-119insA
ENST00000682145.1:n.1007-120_1007-119insA
ENST00000682153.1:c.938-120_938-119insA	ENSP00000507923.1:n.938-120_938-119insA
ENST00000682234.1:c.938-120_938-119insA	ENSP00000508225.1:n.938-120_938-119insA
ENST00000682358.1:n.1008-120_1008-119insA
ENST00000682853.1:n.1158-120_1158-119insA
ENST00000683334.1:c.938-120_938-119insA	ENSP00000507369.1:n.938-120_938-119insA
ENST00000683486.1:n.1004-120_1004-119insA
ENST00000683619.1:n.1041-120_1041-119insA
ENST00000683869.1:n.1019-120_1019-119insA
ENST00000684269.1:n.1039-120_1039-119insA
ENST00000684308.1:n.1004-120_1004-119insA
ENST00000357162.7:c.938-120_938-119insA MANE Select	ENSP00000349685.2:n.938-120_938-119insA
ENST00000358544.7:c.938-120_938-119insA MANE Plus Clinical	ENSP00000351346.2:n.938-120_938-119insA
ENST00000355155.5:c.938-120_938-119insA	ENSP00000347281.1:n.938-120_938-119insA
ENST00000357162.6:c.938-120_938-119insA	ENSP00000349685.2:n.938-120_938-119insA
ENST00000358544.6:c.938-120_938-119insA	ENSP00000351346.2:n.938-120_938-119insA
ENST00000441350.2:c.938-120_938-119insA	ENSP00000398472.2:n.938-120_938-119insA
ENST00000496144.5:c.938-120_938-119insA	ENSP00000430900.1:n.938-120_938-119insA
ENST00000524330.1:n.63-120_63-119insA
NM_015243.2:c.938-120_938-119insA , LRG_351t3:c.938-120_938-119insA	NP_056058.2:n.938-120_938-119insA
NM_017890.4:c.938-120_938-119insA , LRG_351t1:c.938-120_938-119insA	NP_060360.3:n.938-120_938-119insA
NM_152564.4:c.938-120_938-119insA , LRG_351t2:c.938-120_938-119insA	NP_689777.3:n.938-120_938-119insA
NM_181661.2:c.938-120_938-119insA , LRG_351t4:c.938-120_938-119insA	NP_858047.2:n.938-120_938-119insA
NR_047582.1:n.1164-120_1164-119insA
XM_005250800.2:c.938-120_938-119insA	XP_005250857.1:n.938-120_938-119insA
XM_005250801.3:c.938-120_938-119insA	XP_005250858.1:n.938-120_938-119insA
XM_006716510.2:c.938-120_938-119insA	XP_006716573.1:n.938-120_938-119insA
XM_006716511.2:c.938-120_938-119insA	XP_006716574.1:n.938-120_938-119insA
XM_011516848.1:c.938-120_938-119insA	XP_011515150.1:n.938-120_938-119insA
XM_011516849.1:c.938-120_938-119insA	XP_011515151.1:n.938-120_938-119insA
XM_011516850.1:c.560-120_560-119insA	XP_011515152.1:n.560-120_560-119insA
XM_011516853.1:c.938-120_938-119insA	XP_011515155.1:n.938-120_938-119insA
XM_011516855.1:c.938-120_938-119insA	XP_011515157.1:n.938-120_938-119insA
XM_011516856.1:c.938-120_938-119insA	XP_011515158.1:n.938-120_938-119insA
XM_011516857.1:c.938-120_938-119insA	XP_011515159.1:n.938-120_938-119insA
XM_011516858.1:c.938-120_938-119insA	XP_011515160.1:n.938-120_938-119insA
XM_011516859.1:c.938-120_938-119insA	XP_011515161.1:n.938-120_938-119insA
XM_011516860.1:c.938-120_938-119insA	XP_011515162.1:n.938-120_938-119insA
XM_011516861.1:c.938-120_938-119insA	XP_011515163.1:n.938-120_938-119insA
XM_011516862.1:c.938-120_938-119insA	XP_011515164.1:n.938-120_938-119insA
XM_011516863.1:c.938-120_938-119insA	XP_011515165.1:n.938-120_938-119insA
XM_011516864.1:c.938-120_938-119insA	XP_011515166.1:n.938-120_938-119insA
XM_011516865.1:c.938-120_938-119insA	XP_011515167.1:n.938-120_938-119insA
XM_011516866.1:c.938-120_938-119insA	XP_011515168.1:n.938-120_938-119insA
XR_928301.1:n.1041-120_1041-119insA
XR_928302.1:n.1041-120_1041-119insA
XR_928303.1:n.1041-120_1041-119insA
XR_928304.1:n.1041-120_1041-119insA
XM_005250800.3:c.938-120_938-119insA	XP_005250857.1:n.938-120_938-119insA
XM_005250801.5:c.938-120_938-119insA	XP_005250858.1:n.938-120_938-119insA
XM_006716510.3:c.938-120_938-119insA	XP_006716573.1:n.938-120_938-119insA
XM_011516848.2:c.938-120_938-119insA	XP_011515150.1:n.938-120_938-119insA
XM_011516849.2:c.938-120_938-119insA	XP_011515151.1:n.938-120_938-119insA
XM_011516850.2:c.560-120_560-119insA	XP_011515152.1:n.560-120_560-119insA
XM_011516853.2:c.938-120_938-119insA	XP_011515155.1:n.938-120_938-119insA
XM_011516859.2:c.938-120_938-119insA	XP_011515161.1:n.938-120_938-119insA
XM_011516866.2:c.938-120_938-119insA	XP_011515168.1:n.938-120_938-119insA
XM_017013109.1:c.938-120_938-119insA	XP_016868598.1:n.938-120_938-119insA
XM_024447074.1:c.-390-120_-390-119insA	XP_024302842.1:n.-390-120_-390-119insA
XM_024447075.1:c.938-120_938-119insA	XP_024302843.1:n.938-120_938-119insA
XR_001745481.1:n.1041-120_1041-119insA
XR_001745482.2:n.1041-120_1041-119insA
XR_001745484.2:n.1041-120_1041-119insA
XR_002956601.1:n.1041-120_1041-119insA
XR_002956602.1:n.1041-120_1041-119insA
XR_928302.2:n.1041-120_1041-119insA
NM_015243.3:c.938-120_938-119insA	NP_056058.2:n.938-120_938-119insA
NM_017890.5:c.938-120_938-119insA MANE Plus Clinical	NP_060360.3:n.938-120_938-119insA
NM_152564.5:c.938-120_938-119insA MANE Select	NP_689777.3:n.938-120_938-119insA
NM_181661.3:c.938-120_938-119insA	NP_858047.2:n.938-120_938-119insA
NR_047582.2:n.1156-120_1156-119insA