Canonical Allele Identifier: CA2717996332

Gene: VPS13B

Linked Data

• dbSNP Id: rs2130621165

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99766792_99766811dup , CM000670.2:g.99766792_99766811dup	GRCh38
NC_000008.10:g.100779020_100779039dup , CM000670.1:g.100779020_100779039dup	GRCh37
NC_000008.9:g.100848196_100848215dup	NCBI36
NG_007098.2:g.758527_758546dup , LRG_351:g.758527_758546dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.7144_7163dup	ENSP00000507923.1:p.Lys2388AsnfsTer34
ENST00000682358.1:n.7214_7233dup
ENST00000683334.1:c.*2826_*2845dup	ENSP00000507369.1:n.*2826_*2845dup
ENST00000357162.7:c.7069_7088dup MANE Select	ENSP00000349685.2:p.Lys2363AsnfsTer34
ENST00000358544.7:c.7144_7163dup MANE Plus Clinical	ENSP00000351346.2:p.Lys2388AsnfsTer34
ENST00000357162.6:c.7069_7088dup	ENSP00000349685.2:p.Lys2363AsnfsTer34
ENST00000358544.6:c.7144_7163dup	ENSP00000351346.2:p.Lys2388AsnfsTer34
ENST00000518569.1:n.199_218dup
NM_017890.4:c.7144_7163dup , LRG_351t1:c.7144_7163dup	NP_060360.3:p.Lys2388AsnfsTer34
NM_152564.4:c.7069_7088dup , LRG_351t2:c.7069_7088dup	NP_689777.3:p.Lys2363AsnfsTer34
XM_005250800.2:c.7144_7163dup	XP_005250857.1:p.Lys2388AsnfsTer34
XM_005250801.3:c.7144_7163dup	XP_005250858.1:p.Lys2388AsnfsTer34
XM_011516848.1:c.7141_7160dup	XP_011515150.1:p.Lys2387AsnfsTer34
XM_011516849.1:c.7066_7085dup	XP_011515151.1:p.Lys2362AsnfsTer34
XM_011516850.1:c.6766_6785dup	XP_011515152.1:p.Lys2262AsnfsTer34
XM_011516851.1:c.4030_4049dup	XP_011515153.1:p.Lys1350AsnfsTer34
XM_011516852.1:c.4030_4049dup	XP_011515154.1:p.Lys1350AsnfsTer34
XM_011516853.1:c.7144_7163dup	XP_011515155.1:p.Lys2388AsnfsTer34
XM_011516854.1:c.2923_2942dup	XP_011515156.1:p.Lys981AsnfsTer34
XR_928446.1:n.2065+3880_2065+3899dup
XM_005250800.3:c.7144_7163dup	XP_005250857.1:p.Lys2388AsnfsTer34
XM_005250801.5:c.7144_7163dup	XP_005250858.1:p.Lys2388AsnfsTer34
XM_011516848.2:c.7141_7160dup	XP_011515150.1:p.Lys2387AsnfsTer34
XM_011516849.2:c.7066_7085dup	XP_011515151.1:p.Lys2362AsnfsTer34
XM_011516850.2:c.6766_6785dup	XP_011515152.1:p.Lys2262AsnfsTer34
XM_011516851.2:c.4030_4049dup	XP_011515153.1:p.Lys1350AsnfsTer34
XM_011516852.2:c.4030_4049dup	XP_011515154.1:p.Lys1350AsnfsTer34
XM_011516853.2:c.7144_7163dup	XP_011515155.1:p.Lys2388AsnfsTer34
XM_011516854.2:c.2923_2942dup	XP_011515156.1:p.Lys981AsnfsTer34
XM_017013109.1:c.6949_6968dup	XP_016868598.1:p.Lys2323AsnfsTer34
XM_017013111.1:c.4030_4049dup	XP_016868600.1:p.Lys1350AsnfsTer34
XM_017013112.1:c.2701_2720dup	XP_016868601.1:p.Lys907AsnfsTer34
XM_024447074.1:c.5929_5948dup	XP_024302842.1:p.Lys1983AsnfsTer34
NM_017890.5:c.7144_7163dup MANE Plus Clinical	NP_060360.3:p.Lys2388AsnfsTer34
NM_152564.5:c.7069_7088dup MANE Select	NP_689777.3:p.Lys2363AsnfsTer34