Canonical Allele Identifier: CA2781478419

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99777001_99777002insACA , CM000670.2:g.99777001_99777002insACA	GRCh38
NC_000008.10:g.100789229_100789230insACA , CM000670.1:g.100789229_100789230insACA	GRCh37
NC_000008.9:g.100858405_100858406insACA	NCBI36
NG_007098.2:g.768736_768737insACA , LRG_351:g.768736_768737insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7504+45_7504+46insACA	ENSP00000507923.1:n.7504+45_7504+46insACA
ENST00000682358.1:n.7574+45_7574+46insACA
ENST00000683334.1:c.*3186+45_*3186+46insACA	ENSP00000507369.1:n.*3186+45_*3186+46insACA
ENST00000357162.7:c.7429+45_7429+46insACA MANE Select	ENSP00000349685.2:n.7429+45_7429+46insACA
ENST00000358544.7:c.7504+45_7504+46insACA MANE Plus Clinical	ENSP00000351346.2:n.7504+45_7504+46insACA
ENST00000357162.6:c.7429+45_7429+46insACA	ENSP00000349685.2:n.7429+45_7429+46insACA
ENST00000358544.6:c.7504+45_7504+46insACA	ENSP00000351346.2:n.7504+45_7504+46insACA
ENST00000518569.1:n.378-1681_378-1680insACA
NM_017890.4:c.7504+45_7504+46insACA , LRG_351t1:c.7504+45_7504+46insACA	NP_060360.3:n.7504+45_7504+46insACA
NM_152564.4:c.7429+45_7429+46insACA , LRG_351t2:c.7429+45_7429+46insACA	NP_689777.3:n.7429+45_7429+46insACA
XM_005250800.2:c.7504+45_7504+46insACA	XP_005250857.1:n.7504+45_7504+46insACA
XM_005250801.3:c.7504+45_7504+46insACA	XP_005250858.1:n.7504+45_7504+46insACA
XM_011516848.1:c.7501+45_7501+46insACA	XP_011515150.1:n.7501+45_7501+46insACA
XM_011516849.1:c.7426+45_7426+46insACA	XP_011515151.1:n.7426+45_7426+46insACA
XM_011516850.1:c.7126+45_7126+46insACA	XP_011515152.1:n.7126+45_7126+46insACA
XM_011516851.1:c.4390+45_4390+46insACA	XP_011515153.1:n.4390+45_4390+46insACA
XM_011516852.1:c.4390+45_4390+46insACA	XP_011515154.1:n.4390+45_4390+46insACA
XM_011516853.1:c.7504+45_7504+46insACA	XP_011515155.1:n.7504+45_7504+46insACA
XM_011516854.1:c.3283+45_3283+46insACA	XP_011515156.1:n.3283+45_3283+46insACA
XR_928446.1:n.1830+5476_1830+5477insTGT
XM_005250800.3:c.7504+45_7504+46insACA	XP_005250857.1:n.7504+45_7504+46insACA
XM_005250801.5:c.7504+45_7504+46insACA	XP_005250858.1:n.7504+45_7504+46insACA
XM_011516848.2:c.7501+45_7501+46insACA	XP_011515150.1:n.7501+45_7501+46insACA
XM_011516849.2:c.7426+45_7426+46insACA	XP_011515151.1:n.7426+45_7426+46insACA
XM_011516850.2:c.7126+45_7126+46insACA	XP_011515152.1:n.7126+45_7126+46insACA
XM_011516851.2:c.4390+45_4390+46insACA	XP_011515153.1:n.4390+45_4390+46insACA
XM_011516852.2:c.4390+45_4390+46insACA	XP_011515154.1:n.4390+45_4390+46insACA
XM_011516853.2:c.7504+45_7504+46insACA	XP_011515155.1:n.7504+45_7504+46insACA
XM_011516854.2:c.3283+45_3283+46insACA	XP_011515156.1:n.3283+45_3283+46insACA
XM_017013109.1:c.7309+45_7309+46insACA	XP_016868598.1:n.7309+45_7309+46insACA
XM_017013111.1:c.4390+45_4390+46insACA	XP_016868600.1:n.4390+45_4390+46insACA
XM_017013112.1:c.3061+45_3061+46insACA	XP_016868601.1:n.3061+45_3061+46insACA
XM_024447074.1:c.6289+45_6289+46insACA	XP_024302842.1:n.6289+45_6289+46insACA
NM_017890.5:c.7504+45_7504+46insACA MANE Plus Clinical	NP_060360.3:n.7504+45_7504+46insACA
NM_152564.5:c.7429+45_7429+46insACA MANE Select	NP_689777.3:n.7429+45_7429+46insACA