Canonical Allele Identifier: CA2781480158

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99832783_99832785del , CM000670.2:g.99832783_99832785del	GRCh38
NC_000008.10:g.100845011_100845013del , CM000670.1:g.100845011_100845013del	GRCh37
NC_000008.9:g.100914187_100914189del	NCBI36
NG_007098.2:g.824518_824520del , LRG_351:g.824518_824520del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.9689+131_9689+133del	ENSP00000507923.1:n.9689+131_9689+133del
ENST00000682358.1:n.9759+131_9759+133del
ENST00000683334.1:c.*5371+131_*5371+133del	ENSP00000507369.1:n.*5371+131_*5371+133del
ENST00000357162.7:c.9614+131_9614+133del MANE Select	ENSP00000349685.2:n.9614+131_9614+133del
ENST00000358544.7:c.9689+131_9689+133del MANE Plus Clinical	ENSP00000351346.2:n.9689+131_9689+133del
ENST00000357162.6:c.9614+131_9614+133del	ENSP00000349685.2:n.9614+131_9614+133del
ENST00000358544.6:c.9689+131_9689+133del	ENSP00000351346.2:n.9689+131_9689+133del
NM_017890.4:c.9689+131_9689+133del , LRG_351t1:c.9689+131_9689+133del	NP_060360.3:n.9689+131_9689+133del
NM_152564.4:c.9614+131_9614+133del , LRG_351t2:c.9614+131_9614+133del	NP_689777.3:n.9614+131_9614+133del
XM_005250800.2:c.9689+131_9689+133del	XP_005250857.1:n.9689+131_9689+133del
XM_005250801.3:c.9689+131_9689+133del	XP_005250858.1:n.9689+131_9689+133del
XM_011516848.1:c.9686+131_9686+133del	XP_011515150.1:n.9686+131_9686+133del
XM_011516849.1:c.9611+131_9611+133del	XP_011515151.1:n.9611+131_9611+133del
XM_011516850.1:c.9311+131_9311+133del	XP_011515152.1:n.9311+131_9311+133del
XM_011516851.1:c.6575+131_6575+133del	XP_011515153.1:n.6575+131_6575+133del
XM_011516852.1:c.6575+131_6575+133del	XP_011515154.1:n.6575+131_6575+133del
XM_011516854.1:c.5468+131_5468+133del	XP_011515156.1:n.5468+131_5468+133del
XM_005250800.3:c.9689+131_9689+133del	XP_005250857.1:n.9689+131_9689+133del
XM_005250801.5:c.9689+131_9689+133del	XP_005250858.1:n.9689+131_9689+133del
XM_011516848.2:c.9686+131_9686+133del	XP_011515150.1:n.9686+131_9686+133del
XM_011516849.2:c.9611+131_9611+133del	XP_011515151.1:n.9611+131_9611+133del
XM_011516850.2:c.9311+131_9311+133del	XP_011515152.1:n.9311+131_9311+133del
XM_011516851.2:c.6575+131_6575+133del	XP_011515153.1:n.6575+131_6575+133del
XM_011516852.2:c.6575+131_6575+133del	XP_011515154.1:n.6575+131_6575+133del
XM_011516854.2:c.5468+131_5468+133del	XP_011515156.1:n.5468+131_5468+133del
XM_017013109.1:c.9494+131_9494+133del	XP_016868598.1:n.9494+131_9494+133del
XM_017013111.1:c.6575+131_6575+133del	XP_016868600.1:n.6575+131_6575+133del
XM_017013112.1:c.5246+131_5246+133del	XP_016868601.1:n.5246+131_5246+133del
XM_024447074.1:c.8474+131_8474+133del	XP_024302842.1:n.8474+131_8474+133del
NM_017890.5:c.9689+131_9689+133del MANE Plus Clinical	NP_060360.3:n.9689+131_9689+133del
NM_152564.5:c.9614+131_9614+133del MANE Select	NP_689777.3:n.9614+131_9614+133del