Canonical Allele Identifier: CA2497231636

Gene: VPS13B

Linked Data

• dbSNP Id: rs1816855841

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861892dup , CM000670.2:g.99861892dup	GRCh38
NC_000008.10:g.100874120dup , CM000670.1:g.100874120dup	GRCh37
NC_000008.9:g.100943296dup	NCBI36
NG_007098.2:g.853627dup , LRG_351:g.853627dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*330dup	ENSP00000507923.1:n.*330dup
ENST00000682358.1:n.11306dup
ENST00000683334.1:c.*6918dup	ENSP00000507369.1:n.*6918dup
ENST00000357162.7:c.11161dup MANE Select	ENSP00000349685.2:p.Ser3721LysfsTer26
ENST00000358544.7:c.11236dup MANE Plus Clinical	ENSP00000351346.2:p.Ser3746LysfsTer26
ENST00000357162.6:c.11161dup	ENSP00000349685.2:p.Ser3721LysfsTer26
ENST00000358544.6:c.11236dup	ENSP00000351346.2:p.Ser3746LysfsTer26
NM_017890.4:c.11236dup , LRG_351t1:c.11236dup	NP_060360.3:p.Ser3746LysfsTer26
NM_152564.4:c.11161dup , LRG_351t2:c.11161dup	NP_689777.3:p.Ser3721LysfsTer26
XM_005250800.2:c.11236dup	XP_005250857.1:p.Ser3746LysfsTer26
XM_005250801.3:c.11236dup	XP_005250858.1:p.Ser3746LysfsTer26
XM_011516848.1:c.11233dup	XP_011515150.1:p.Ser3745LysfsTer26
XM_011516849.1:c.11158dup	XP_011515151.1:p.Ser3720LysfsTer26
XM_011516850.1:c.10858dup	XP_011515152.1:p.Ser3620LysfsTer26
XM_011516851.1:c.8122dup	XP_011515153.1:p.Ser2708LysfsTer26
XM_011516852.1:c.8122dup	XP_011515154.1:p.Ser2708LysfsTer26
XM_011516854.1:c.7015dup	XP_011515156.1:p.Ser2339LysfsTer26
XM_005250800.3:c.11236dup	XP_005250857.1:p.Ser3746LysfsTer26
XM_005250801.5:c.11236dup	XP_005250858.1:p.Ser3746LysfsTer26
XM_011516848.2:c.11233dup	XP_011515150.1:p.Ser3745LysfsTer26
XM_011516849.2:c.11158dup	XP_011515151.1:p.Ser3720LysfsTer26
XM_011516850.2:c.10858dup	XP_011515152.1:p.Ser3620LysfsTer26
XM_011516851.2:c.8122dup	XP_011515153.1:p.Ser2708LysfsTer26
XM_011516852.2:c.8122dup	XP_011515154.1:p.Ser2708LysfsTer26
XM_011516854.2:c.7015dup	XP_011515156.1:p.Ser2339LysfsTer26
XM_017013109.1:c.11041dup	XP_016868598.1:p.Ser3681LysfsTer26
XM_017013111.1:c.8122dup	XP_016868600.1:p.Ser2708LysfsTer26
XM_017013112.1:c.6793dup	XP_016868601.1:p.Ser2265LysfsTer26
XM_024447074.1:c.10021dup	XP_024302842.1:p.Ser3341LysfsTer26
NM_017890.5:c.11236dup MANE Plus Clinical	NP_060360.3:p.Ser3746LysfsTer26
NM_152564.5:c.11161dup MANE Select	NP_689777.3:p.Ser3721LysfsTer26