Canonical Allele Identifier: CA2688067387

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99717277-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99717279del , CM000670.2:g.99717279del	GRCh38
NC_000008.10:g.100729507del , CM000670.1:g.100729507del	GRCh37
NC_000008.9:g.100798683del	NCBI36
NG_007098.2:g.709014del , LRG_351:g.709014del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.6638del	ENSP00000507923.1:p.Asn2213IlefsTer26
ENST00000682358.1:n.6708del
ENST00000683334.1:c.*2320del	ENSP00000507369.1:n.*2320del
ENST00000357162.7:c.6563del MANE Select	ENSP00000349685.2:p.Asn2188IlefsTer26
ENST00000358544.7:c.6638del MANE Plus Clinical	ENSP00000351346.2:p.Asn2213IlefsTer26
ENST00000357162.6:c.6563del	ENSP00000349685.2:p.Asn2188IlefsTer26
ENST00000358544.6:c.6638del	ENSP00000351346.2:p.Asn2213IlefsTer26
NM_017890.4:c.6638del , LRG_351t1:c.6638del	NP_060360.3:p.Asn2213IlefsTer26
NM_152564.4:c.6563del , LRG_351t2:c.6563del	NP_689777.3:p.Asn2188IlefsTer26
XM_005250800.2:c.6638del	XP_005250857.1:p.Asn2213IlefsTer26
XM_005250801.3:c.6638del	XP_005250858.1:p.Asn2213IlefsTer26
XM_011516848.1:c.6635del	XP_011515150.1:p.Asn2212IlefsTer26
XM_011516849.1:c.6560del	XP_011515151.1:p.Asn2187IlefsTer26
XM_011516850.1:c.6260del	XP_011515152.1:p.Asn2087IlefsTer26
XM_011516851.1:c.3524del	XP_011515153.1:p.Asn1175IlefsTer26
XM_011516852.1:c.3524del	XP_011515154.1:p.Asn1175IlefsTer26
XM_011516853.1:c.6638del	XP_011515155.1:p.Asn2213IlefsTer26
XM_011516854.1:c.2417del	XP_011515156.1:p.Asn806IlefsTer26
XM_005250800.3:c.6638del	XP_005250857.1:p.Asn2213IlefsTer26
XM_005250801.5:c.6638del	XP_005250858.1:p.Asn2213IlefsTer26
XM_011516848.2:c.6635del	XP_011515150.1:p.Asn2212IlefsTer26
XM_011516849.2:c.6560del	XP_011515151.1:p.Asn2187IlefsTer26
XM_011516850.2:c.6260del	XP_011515152.1:p.Asn2087IlefsTer26
XM_011516851.2:c.3524del	XP_011515153.1:p.Asn1175IlefsTer26
XM_011516852.2:c.3524del	XP_011515154.1:p.Asn1175IlefsTer26
XM_011516853.2:c.6638del	XP_011515155.1:p.Asn2213IlefsTer26
XM_011516854.2:c.2417del	XP_011515156.1:p.Asn806IlefsTer26
XM_017013109.1:c.6443del	XP_016868598.1:p.Asn2148IlefsTer26
XM_017013111.1:c.3524del	XP_016868600.1:p.Asn1175IlefsTer26
XM_017013112.1:c.2195del	XP_016868601.1:p.Asn732IlefsTer26
XM_024447074.1:c.5423del	XP_024302842.1:p.Asn1808IlefsTer26
NM_017890.5:c.6638del MANE Plus Clinical	NP_060360.3:p.Asn2213IlefsTer26
NM_152564.5:c.6563del MANE Select	NP_689777.3:p.Asn2188IlefsTer26