Canonical Allele Identifier: CA2497230829

Gene: VPS13B

Linked Data

• dbSNP Id: rs1811763132

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776811_99776821dup , CM000670.2:g.99776811_99776821dup	GRCh38
NC_000008.10:g.100789039_100789049dup , CM000670.1:g.100789039_100789049dup	GRCh37
NC_000008.9:g.100858215_100858225dup	NCBI36
NG_007098.2:g.768546_768556dup , LRG_351:g.768546_768556dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7359_7369dup	ENSP00000507923.1:p.Thr2457IlefsTer4
ENST00000682358.1:n.7429_7439dup
ENST00000683334.1:c.*3041_*3051dup	ENSP00000507369.1:n.*3041_*3051dup
ENST00000357162.7:c.7284_7294dup MANE Select	ENSP00000349685.2:p.Thr2432IlefsTer4
ENST00000358544.7:c.7359_7369dup MANE Plus Clinical	ENSP00000351346.2:p.Thr2457IlefsTer4
ENST00000357162.6:c.7284_7294dup	ENSP00000349685.2:p.Thr2432IlefsTer4
ENST00000358544.6:c.7359_7369dup	ENSP00000351346.2:p.Thr2457IlefsTer4
ENST00000518569.1:n.378-1871_378-1861dup
NM_017890.4:c.7359_7369dup , LRG_351t1:c.7359_7369dup	NP_060360.3:p.Thr2457IlefsTer4
NM_152564.4:c.7284_7294dup , LRG_351t2:c.7284_7294dup	NP_689777.3:p.Thr2432IlefsTer4
XM_005250800.2:c.7359_7369dup	XP_005250857.1:p.Thr2457IlefsTer4
XM_005250801.3:c.7359_7369dup	XP_005250858.1:p.Thr2457IlefsTer4
XM_011516848.1:c.7356_7366dup	XP_011515150.1:p.Thr2456IlefsTer4
XM_011516849.1:c.7281_7291dup	XP_011515151.1:p.Thr2431IlefsTer4
XM_011516850.1:c.6981_6991dup	XP_011515152.1:p.Thr2331IlefsTer4
XM_011516851.1:c.4245_4255dup	XP_011515153.1:p.Thr1419IlefsTer4
XM_011516852.1:c.4245_4255dup	XP_011515154.1:p.Thr1419IlefsTer4
XM_011516853.1:c.7359_7369dup	XP_011515155.1:p.Thr2457IlefsTer4
XM_011516854.1:c.3138_3148dup	XP_011515156.1:p.Thr1050IlefsTer4
XR_928446.1:n.1830+5666_1830+5676dup
XM_005250800.3:c.7359_7369dup	XP_005250857.1:p.Thr2457IlefsTer4
XM_005250801.5:c.7359_7369dup	XP_005250858.1:p.Thr2457IlefsTer4
XM_011516848.2:c.7356_7366dup	XP_011515150.1:p.Thr2456IlefsTer4
XM_011516849.2:c.7281_7291dup	XP_011515151.1:p.Thr2431IlefsTer4
XM_011516850.2:c.6981_6991dup	XP_011515152.1:p.Thr2331IlefsTer4
XM_011516851.2:c.4245_4255dup	XP_011515153.1:p.Thr1419IlefsTer4
XM_011516852.2:c.4245_4255dup	XP_011515154.1:p.Thr1419IlefsTer4
XM_011516853.2:c.7359_7369dup	XP_011515155.1:p.Thr2457IlefsTer4
XM_011516854.2:c.3138_3148dup	XP_011515156.1:p.Thr1050IlefsTer4
XM_017013109.1:c.7164_7174dup	XP_016868598.1:p.Thr2392IlefsTer4
XM_017013111.1:c.4245_4255dup	XP_016868600.1:p.Thr1419IlefsTer4
XM_017013112.1:c.2916_2926dup	XP_016868601.1:p.Thr976IlefsTer4
XM_024447074.1:c.6144_6154dup	XP_024302842.1:p.Thr2052IlefsTer4
NM_017890.5:c.7359_7369dup MANE Plus Clinical	NP_060360.3:p.Thr2457IlefsTer4
NM_152564.5:c.7284_7294dup MANE Select	NP_689777.3:p.Thr2432IlefsTer4