Canonical Allele Identifier: CA2781478538

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99777137_99777138insCAC , CM000670.2:g.99777137_99777138insCAC	GRCh38
NC_000008.10:g.100789365_100789366insCAC , CM000670.1:g.100789365_100789366insCAC	GRCh37
NC_000008.9:g.100858541_100858542insCAC	NCBI36
NG_007098.2:g.768872_768873insCAC , LRG_351:g.768872_768873insCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7504+181_7504+182insCAC	ENSP00000507923.1:n.7504+181_7504+182insCAC
ENST00000682358.1:n.7574+181_7574+182insCAC
ENST00000683334.1:c.*3186+181_*3186+182insCAC	ENSP00000507369.1:n.*3186+181_*3186+182insCAC
ENST00000357162.7:c.7429+181_7429+182insCAC MANE Select	ENSP00000349685.2:n.7429+181_7429+182insCAC
ENST00000358544.7:c.7504+181_7504+182insCAC MANE Plus Clinical	ENSP00000351346.2:n.7504+181_7504+182insCAC
ENST00000357162.6:c.7429+181_7429+182insCAC	ENSP00000349685.2:n.7429+181_7429+182insCAC
ENST00000358544.6:c.7504+181_7504+182insCAC	ENSP00000351346.2:n.7504+181_7504+182insCAC
ENST00000518569.1:n.378-1545_378-1544insCAC
NM_017890.4:c.7504+181_7504+182insCAC , LRG_351t1:c.7504+181_7504+182insCAC	NP_060360.3:n.7504+181_7504+182insCAC
NM_152564.4:c.7429+181_7429+182insCAC , LRG_351t2:c.7429+181_7429+182insCAC	NP_689777.3:n.7429+181_7429+182insCAC
XM_005250800.2:c.7504+181_7504+182insCAC	XP_005250857.1:n.7504+181_7504+182insCAC
XM_005250801.3:c.7504+181_7504+182insCAC	XP_005250858.1:n.7504+181_7504+182insCAC
XM_011516848.1:c.7501+181_7501+182insCAC	XP_011515150.1:n.7501+181_7501+182insCAC
XM_011516849.1:c.7426+181_7426+182insCAC	XP_011515151.1:n.7426+181_7426+182insCAC
XM_011516850.1:c.7126+181_7126+182insCAC	XP_011515152.1:n.7126+181_7126+182insCAC
XM_011516851.1:c.4390+181_4390+182insCAC	XP_011515153.1:n.4390+181_4390+182insCAC
XM_011516852.1:c.4390+181_4390+182insCAC	XP_011515154.1:n.4390+181_4390+182insCAC
XM_011516853.1:c.7504+181_7504+182insCAC	XP_011515155.1:n.7504+181_7504+182insCAC
XM_011516854.1:c.3283+181_3283+182insCAC	XP_011515156.1:n.3283+181_3283+182insCAC
XR_928446.1:n.1830+5340_1830+5341insGTG
XM_005250800.3:c.7504+181_7504+182insCAC	XP_005250857.1:n.7504+181_7504+182insCAC
XM_005250801.5:c.7504+181_7504+182insCAC	XP_005250858.1:n.7504+181_7504+182insCAC
XM_011516848.2:c.7501+181_7501+182insCAC	XP_011515150.1:n.7501+181_7501+182insCAC
XM_011516849.2:c.7426+181_7426+182insCAC	XP_011515151.1:n.7426+181_7426+182insCAC
XM_011516850.2:c.7126+181_7126+182insCAC	XP_011515152.1:n.7126+181_7126+182insCAC
XM_011516851.2:c.4390+181_4390+182insCAC	XP_011515153.1:n.4390+181_4390+182insCAC
XM_011516852.2:c.4390+181_4390+182insCAC	XP_011515154.1:n.4390+181_4390+182insCAC
XM_011516853.2:c.7504+181_7504+182insCAC	XP_011515155.1:n.7504+181_7504+182insCAC
XM_011516854.2:c.3283+181_3283+182insCAC	XP_011515156.1:n.3283+181_3283+182insCAC
XM_017013109.1:c.7309+181_7309+182insCAC	XP_016868598.1:n.7309+181_7309+182insCAC
XM_017013111.1:c.4390+181_4390+182insCAC	XP_016868600.1:n.4390+181_4390+182insCAC
XM_017013112.1:c.3061+181_3061+182insCAC	XP_016868601.1:n.3061+181_3061+182insCAC
XM_024447074.1:c.6289+181_6289+182insCAC	XP_024302842.1:n.6289+181_6289+182insCAC
NM_017890.5:c.7504+181_7504+182insCAC MANE Plus Clinical	NP_060360.3:n.7504+181_7504+182insCAC
NM_152564.5:c.7429+181_7429+182insCAC MANE Select	NP_689777.3:n.7429+181_7429+182insCAC