Canonical Allele Identifier: CA2781478542

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99777152_99777154del , CM000670.2:g.99777152_99777154del	GRCh38
NC_000008.10:g.100789380_100789382del , CM000670.1:g.100789380_100789382del	GRCh37
NC_000008.9:g.100858556_100858558del	NCBI36
NG_007098.2:g.768887_768889del , LRG_351:g.768887_768889del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7504+196_7504+198del	ENSP00000507923.1:n.7504+196_7504+198del
ENST00000682358.1:n.7574+196_7574+198del
ENST00000683334.1:c.*3186+196_*3186+198del	ENSP00000507369.1:n.*3186+196_*3186+198del
ENST00000357162.7:c.7429+196_7429+198del MANE Select	ENSP00000349685.2:n.7429+196_7429+198del
ENST00000358544.7:c.7504+196_7504+198del MANE Plus Clinical	ENSP00000351346.2:n.7504+196_7504+198del
ENST00000357162.6:c.7429+196_7429+198del	ENSP00000349685.2:n.7429+196_7429+198del
ENST00000358544.6:c.7504+196_7504+198del	ENSP00000351346.2:n.7504+196_7504+198del
ENST00000518569.1:n.378-1530_378-1528del
NM_017890.4:c.7504+196_7504+198del , LRG_351t1:c.7504+196_7504+198del	NP_060360.3:n.7504+196_7504+198del
NM_152564.4:c.7429+196_7429+198del , LRG_351t2:c.7429+196_7429+198del	NP_689777.3:n.7429+196_7429+198del
XM_005250800.2:c.7504+196_7504+198del	XP_005250857.1:n.7504+196_7504+198del
XM_005250801.3:c.7504+196_7504+198del	XP_005250858.1:n.7504+196_7504+198del
XM_011516848.1:c.7501+196_7501+198del	XP_011515150.1:n.7501+196_7501+198del
XM_011516849.1:c.7426+196_7426+198del	XP_011515151.1:n.7426+196_7426+198del
XM_011516850.1:c.7126+196_7126+198del	XP_011515152.1:n.7126+196_7126+198del
XM_011516851.1:c.4390+196_4390+198del	XP_011515153.1:n.4390+196_4390+198del
XM_011516852.1:c.4390+196_4390+198del	XP_011515154.1:n.4390+196_4390+198del
XM_011516853.1:c.7504+196_7504+198del	XP_011515155.1:n.7504+196_7504+198del
XM_011516854.1:c.3283+196_3283+198del	XP_011515156.1:n.3283+196_3283+198del
XR_928446.1:n.1830+5326_1830+5328del
XM_005250800.3:c.7504+196_7504+198del	XP_005250857.1:n.7504+196_7504+198del
XM_005250801.5:c.7504+196_7504+198del	XP_005250858.1:n.7504+196_7504+198del
XM_011516848.2:c.7501+196_7501+198del	XP_011515150.1:n.7501+196_7501+198del
XM_011516849.2:c.7426+196_7426+198del	XP_011515151.1:n.7426+196_7426+198del
XM_011516850.2:c.7126+196_7126+198del	XP_011515152.1:n.7126+196_7126+198del
XM_011516851.2:c.4390+196_4390+198del	XP_011515153.1:n.4390+196_4390+198del
XM_011516852.2:c.4390+196_4390+198del	XP_011515154.1:n.4390+196_4390+198del
XM_011516853.2:c.7504+196_7504+198del	XP_011515155.1:n.7504+196_7504+198del
XM_011516854.2:c.3283+196_3283+198del	XP_011515156.1:n.3283+196_3283+198del
XM_017013109.1:c.7309+196_7309+198del	XP_016868598.1:n.7309+196_7309+198del
XM_017013111.1:c.4390+196_4390+198del	XP_016868600.1:n.4390+196_4390+198del
XM_017013112.1:c.3061+196_3061+198del	XP_016868601.1:n.3061+196_3061+198del
XM_024447074.1:c.6289+196_6289+198del	XP_024302842.1:n.6289+196_6289+198del
NM_017890.5:c.7504+196_7504+198del MANE Plus Clinical	NP_060360.3:n.7504+196_7504+198del
NM_152564.5:c.7429+196_7429+198del MANE Select	NP_689777.3:n.7429+196_7429+198del