Canonical Allele Identifier: CA891843249

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 587610
• ClinVar RCV Id: RCV000714846
• dbSNP Id: rs1563509743
• MyVariant Identifiers: chr8:g.100865902dup (hg19) ; chr8:g.99853674dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99853674dup , CM000670.2:g.99853674dup	GRCh38
NC_000008.10:g.100865902dup , CM000670.1:g.100865902dup	GRCh37
NC_000008.9:g.100935078dup	NCBI36
NG_007098.2:g.845409dup , LRG_351:g.845409dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.10360dup	ENSP00000507923.1:p.Leu3454ProfsTer7
ENST00000682358.1:n.10430dup
ENST00000683334.1:c.*6042dup	ENSP00000507369.1:n.*6042dup
ENST00000357162.7:c.10285dup MANE Select	ENSP00000349685.2:p.Leu3429ProfsTer7
ENST00000358544.7:c.10360dup MANE Plus Clinical	ENSP00000351346.2:p.Leu3454ProfsTer7
ENST00000357162.6:c.10285dup	ENSP00000349685.2:p.Leu3429ProfsTer7
ENST00000358544.6:c.10360dup	ENSP00000351346.2:p.Leu3454ProfsTer7
NM_017890.4:c.10360dup , LRG_351t1:c.10360dup	NP_060360.3:p.Leu3454ProfsTer7
NM_152564.4:c.10285dup , LRG_351t2:c.10285dup	NP_689777.3:p.Leu3429ProfsTer7
XM_005250800.2:c.10360dup	XP_005250857.1:p.Leu3454ProfsTer7
XM_005250801.3:c.10360dup	XP_005250858.1:p.Leu3454ProfsTer7
XM_011516848.1:c.10357dup	XP_011515150.1:p.Leu3453ProfsTer7
XM_011516849.1:c.10282dup	XP_011515151.1:p.Leu3428ProfsTer7
XM_011516850.1:c.9982dup	XP_011515152.1:p.Leu3328ProfsTer7
XM_011516851.1:c.7246dup	XP_011515153.1:p.Leu2416ProfsTer7
XM_011516852.1:c.7246dup	XP_011515154.1:p.Leu2416ProfsTer7
XM_011516854.1:c.6139dup	XP_011515156.1:p.Leu2047ProfsTer7
XM_005250800.3:c.10360dup	XP_005250857.1:p.Leu3454ProfsTer7
XM_005250801.5:c.10360dup	XP_005250858.1:p.Leu3454ProfsTer7
XM_011516848.2:c.10357dup	XP_011515150.1:p.Leu3453ProfsTer7
XM_011516849.2:c.10282dup	XP_011515151.1:p.Leu3428ProfsTer7
XM_011516850.2:c.9982dup	XP_011515152.1:p.Leu3328ProfsTer7
XM_011516851.2:c.7246dup	XP_011515153.1:p.Leu2416ProfsTer7
XM_011516852.2:c.7246dup	XP_011515154.1:p.Leu2416ProfsTer7
XM_011516854.2:c.6139dup	XP_011515156.1:p.Leu2047ProfsTer7
XM_017013109.1:c.10165dup	XP_016868598.1:p.Leu3389ProfsTer7
XM_017013111.1:c.7246dup	XP_016868600.1:p.Leu2416ProfsTer7
XM_017013112.1:c.5917dup	XP_016868601.1:p.Leu1973ProfsTer7
XM_024447074.1:c.9145dup	XP_024302842.1:p.Leu3049ProfsTer7
NM_017890.5:c.10360dup MANE Plus Clinical	NP_060360.3:p.Leu3454ProfsTer7
NM_152564.5:c.10285dup MANE Select	NP_689777.3:p.Leu3429ProfsTer7