Canonical Allele Identifier: CA658821920

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 553203
• ClinVar RCV Id: RCV000668599
• dbSNP Id: rs1554586994
• MyVariant Identifiers: chr8:g.99868453_99868454del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868453_99868454del , CM000670.2:g.99868453_99868454del	GRCh38
NC_000008.10:g.100880681_100880682del , CM000670.1:g.100880681_100880682del	GRCh37
NC_000008.9:g.100949857_100949858del	NCBI36
NG_007098.2:g.860188_860189del , LRG_351:g.860188_860189del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*549_*550del	ENSP00000507923.1:n.*549_*550del
ENST00000682358.1:n.11525_11526del
ENST00000683334.1:c.*7137_*7138del	ENSP00000507369.1:n.*7137_*7138del
ENST00000357162.7:c.11380_11381del MANE Select	ENSP00000349685.2:p.Gln3794AspfsTer23
ENST00000358544.7:c.11455_11456del MANE Plus Clinical	ENSP00000351346.2:p.Gln3819AspfsTer23
ENST00000357162.6:c.11380_11381del	ENSP00000349685.2:p.Gln3794AspfsTer23
ENST00000358544.6:c.11455_11456del	ENSP00000351346.2:p.Gln3819AspfsTer23
ENST00000493587.1:n.397_398del
NM_017890.4:c.11455_11456del , LRG_351t1:c.11455_11456del	NP_060360.3:p.Gln3819AspfsTer23
NM_152564.4:c.11380_11381del , LRG_351t2:c.11380_11381del	NP_689777.3:p.Gln3794AspfsTer23
XM_005250800.2:c.11455_11456del	XP_005250857.1:p.Gln3819AspfsTer23
XM_005250801.3:c.11455_11456del	XP_005250858.1:p.Gln3819AspfsTer23
XM_011516848.1:c.11452_11453del	XP_011515150.1:p.Gln3818AspfsTer23
XM_011516849.1:c.11377_11378del	XP_011515151.1:p.Gln3793AspfsTer23
XM_011516850.1:c.11077_11078del	XP_011515152.1:p.Gln3693AspfsTer23
XM_011516851.1:c.8341_8342del	XP_011515153.1:p.Gln2781AspfsTer23
XM_011516852.1:c.8341_8342del	XP_011515154.1:p.Gln2781AspfsTer23
XM_011516854.1:c.7234_7235del	XP_011515156.1:p.Gln2412AspfsTer23
XM_005250800.3:c.11455_11456del	XP_005250857.1:p.Gln3819AspfsTer23
XM_005250801.5:c.11455_11456del	XP_005250858.1:p.Gln3819AspfsTer23
XM_011516848.2:c.11452_11453del	XP_011515150.1:p.Gln3818AspfsTer23
XM_011516849.2:c.11377_11378del	XP_011515151.1:p.Gln3793AspfsTer23
XM_011516850.2:c.11077_11078del	XP_011515152.1:p.Gln3693AspfsTer23
XM_011516851.2:c.8341_8342del	XP_011515153.1:p.Gln2781AspfsTer23
XM_011516852.2:c.8341_8342del	XP_011515154.1:p.Gln2781AspfsTer23
XM_011516854.2:c.7234_7235del	XP_011515156.1:p.Gln2412AspfsTer23
XM_017013109.1:c.11260_11261del	XP_016868598.1:p.Gln3754AspfsTer23
XM_017013111.1:c.8341_8342del	XP_016868600.1:p.Gln2781AspfsTer23
XM_017013112.1:c.7012_7013del	XP_016868601.1:p.Gln2338AspfsTer23
XM_024447074.1:c.10240_10241del	XP_024302842.1:p.Gln3414AspfsTer23
NM_017890.5:c.11455_11456del MANE Plus Clinical	NP_060360.3:p.Gln3819AspfsTer23
NM_152564.5:c.11380_11381del MANE Select	NP_689777.3:p.Gln3794AspfsTer23