Canonical Allele Identifier: CA2781478482

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99777060_99777061insACT , CM000670.2:g.99777060_99777061insACT	GRCh38
NC_000008.10:g.100789288_100789289insACT , CM000670.1:g.100789288_100789289insACT	GRCh37
NC_000008.9:g.100858464_100858465insACT	NCBI36
NG_007098.2:g.768795_768796insACT , LRG_351:g.768795_768796insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7504+104_7504+105insACT	ENSP00000507923.1:n.7504+104_7504+105insACT
ENST00000682358.1:n.7574+104_7574+105insACT
ENST00000683334.1:c.*3186+104_*3186+105insACT	ENSP00000507369.1:n.*3186+104_*3186+105insACT
ENST00000357162.7:c.7429+104_7429+105insACT MANE Select	ENSP00000349685.2:n.7429+104_7429+105insACT
ENST00000358544.7:c.7504+104_7504+105insACT MANE Plus Clinical	ENSP00000351346.2:n.7504+104_7504+105insACT
ENST00000357162.6:c.7429+104_7429+105insACT	ENSP00000349685.2:n.7429+104_7429+105insACT
ENST00000358544.6:c.7504+104_7504+105insACT	ENSP00000351346.2:n.7504+104_7504+105insACT
ENST00000518569.1:n.378-1622_378-1621insACT
NM_017890.4:c.7504+104_7504+105insACT , LRG_351t1:c.7504+104_7504+105insACT	NP_060360.3:n.7504+104_7504+105insACT
NM_152564.4:c.7429+104_7429+105insACT , LRG_351t2:c.7429+104_7429+105insACT	NP_689777.3:n.7429+104_7429+105insACT
XM_005250800.2:c.7504+104_7504+105insACT	XP_005250857.1:n.7504+104_7504+105insACT
XM_005250801.3:c.7504+104_7504+105insACT	XP_005250858.1:n.7504+104_7504+105insACT
XM_011516848.1:c.7501+104_7501+105insACT	XP_011515150.1:n.7501+104_7501+105insACT
XM_011516849.1:c.7426+104_7426+105insACT	XP_011515151.1:n.7426+104_7426+105insACT
XM_011516850.1:c.7126+104_7126+105insACT	XP_011515152.1:n.7126+104_7126+105insACT
XM_011516851.1:c.4390+104_4390+105insACT	XP_011515153.1:n.4390+104_4390+105insACT
XM_011516852.1:c.4390+104_4390+105insACT	XP_011515154.1:n.4390+104_4390+105insACT
XM_011516853.1:c.7504+104_7504+105insACT	XP_011515155.1:n.7504+104_7504+105insACT
XM_011516854.1:c.3283+104_3283+105insACT	XP_011515156.1:n.3283+104_3283+105insACT
XR_928446.1:n.1830+5417_1830+5418insAGT
XM_005250800.3:c.7504+104_7504+105insACT	XP_005250857.1:n.7504+104_7504+105insACT
XM_005250801.5:c.7504+104_7504+105insACT	XP_005250858.1:n.7504+104_7504+105insACT
XM_011516848.2:c.7501+104_7501+105insACT	XP_011515150.1:n.7501+104_7501+105insACT
XM_011516849.2:c.7426+104_7426+105insACT	XP_011515151.1:n.7426+104_7426+105insACT
XM_011516850.2:c.7126+104_7126+105insACT	XP_011515152.1:n.7126+104_7126+105insACT
XM_011516851.2:c.4390+104_4390+105insACT	XP_011515153.1:n.4390+104_4390+105insACT
XM_011516852.2:c.4390+104_4390+105insACT	XP_011515154.1:n.4390+104_4390+105insACT
XM_011516853.2:c.7504+104_7504+105insACT	XP_011515155.1:n.7504+104_7504+105insACT
XM_011516854.2:c.3283+104_3283+105insACT	XP_011515156.1:n.3283+104_3283+105insACT
XM_017013109.1:c.7309+104_7309+105insACT	XP_016868598.1:n.7309+104_7309+105insACT
XM_017013111.1:c.4390+104_4390+105insACT	XP_016868600.1:n.4390+104_4390+105insACT
XM_017013112.1:c.3061+104_3061+105insACT	XP_016868601.1:n.3061+104_3061+105insACT
XM_024447074.1:c.6289+104_6289+105insACT	XP_024302842.1:n.6289+104_6289+105insACT
NM_017890.5:c.7504+104_7504+105insACT MANE Plus Clinical	NP_060360.3:n.7504+104_7504+105insACT
NM_152564.5:c.7429+104_7429+105insACT MANE Select	NP_689777.3:n.7429+104_7429+105insACT