Canonical Allele Identifier: CA583884777

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 553273
• ClinVar RCV Id: RCV000668681
• dbSNP Id: rs1301330402
• gnomAD v2: 8-100847964-C-CTTT
• MyVariant Identifiers: chr8:g.100847964_100847965insTTT (hg19) ; chr8:g.99835736_99835737insTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99835736_99835737insTTT , CM000670.2:g.99835736_99835737insTTT	GRCh38
NC_000008.10:g.100847964_100847965insTTT , CM000670.1:g.100847964_100847965insTTT	GRCh37
NC_000008.9:g.100917140_100917141insTTT	NCBI36
NG_007098.2:g.827471_827472insTTT , LRG_351:g.827471_827472insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.10015_10016insTTT	ENSP00000507923.1:p.Gln3339LeufsTer2
ENST00000682358.1:n.10085_10086insTTT
ENST00000683334.1:c.*5697_*5698insTTT	ENSP00000507369.1:n.*5697_*5698insTTT
ENST00000357162.7:c.9940_9941insTTT MANE Select	ENSP00000349685.2:p.Gln3314LeufsTer2
ENST00000358544.7:c.10015_10016insTTT MANE Plus Clinical	ENSP00000351346.2:p.Gln3339LeufsTer2
ENST00000357162.6:c.9940_9941insTTT	ENSP00000349685.2:p.Gln3314LeufsTer2
ENST00000358544.6:c.10015_10016insTTT	ENSP00000351346.2:p.Gln3339LeufsTer2
NM_017890.4:c.10015_10016insTTT , LRG_351t1:c.10015_10016insTTT	NP_060360.3:p.Gln3339LeufsTer2
NM_152564.4:c.9940_9941insTTT , LRG_351t2:c.9940_9941insTTT	NP_689777.3:p.Gln3314LeufsTer2
XM_005250800.2:c.10015_10016insTTT	XP_005250857.1:p.Gln3339LeufsTer2
XM_005250801.3:c.10015_10016insTTT	XP_005250858.1:p.Gln3339LeufsTer2
XM_011516848.1:c.10012_10013insTTT	XP_011515150.1:p.Gln3338LeufsTer2
XM_011516849.1:c.9937_9938insTTT	XP_011515151.1:p.Gln3313LeufsTer2
XM_011516850.1:c.9637_9638insTTT	XP_011515152.1:p.Gln3213LeufsTer2
XM_011516851.1:c.6901_6902insTTT	XP_011515153.1:p.Gln2301LeufsTer2
XM_011516852.1:c.6901_6902insTTT	XP_011515154.1:p.Gln2301LeufsTer2
XM_011516854.1:c.5794_5795insTTT	XP_011515156.1:p.Gln1932LeufsTer2
XM_005250800.3:c.10015_10016insTTT	XP_005250857.1:p.Gln3339LeufsTer2
XM_005250801.5:c.10015_10016insTTT	XP_005250858.1:p.Gln3339LeufsTer2
XM_011516848.2:c.10012_10013insTTT	XP_011515150.1:p.Gln3338LeufsTer2
XM_011516849.2:c.9937_9938insTTT	XP_011515151.1:p.Gln3313LeufsTer2
XM_011516850.2:c.9637_9638insTTT	XP_011515152.1:p.Gln3213LeufsTer2
XM_011516851.2:c.6901_6902insTTT	XP_011515153.1:p.Gln2301LeufsTer2
XM_011516852.2:c.6901_6902insTTT	XP_011515154.1:p.Gln2301LeufsTer2
XM_011516854.2:c.5794_5795insTTT	XP_011515156.1:p.Gln1932LeufsTer2
XM_017013109.1:c.9820_9821insTTT	XP_016868598.1:p.Gln3274LeufsTer2
XM_017013111.1:c.6901_6902insTTT	XP_016868600.1:p.Gln2301LeufsTer2
XM_017013112.1:c.5572_5573insTTT	XP_016868601.1:p.Gln1858LeufsTer2
XM_024447074.1:c.8800_8801insTTT	XP_024302842.1:p.Gln2934LeufsTer2
NM_017890.5:c.10015_10016insTTT MANE Plus Clinical	NP_060360.3:p.Gln3339LeufsTer2
NM_152564.5:c.9940_9941insTTT MANE Select	NP_689777.3:p.Gln3314LeufsTer2