Canonical Allele Identifier: CA2781478446

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99777035_99777036insGTC , CM000670.2:g.99777035_99777036insGTC	GRCh38
NC_000008.10:g.100789263_100789264insGTC , CM000670.1:g.100789263_100789264insGTC	GRCh37
NC_000008.9:g.100858439_100858440insGTC	NCBI36
NG_007098.2:g.768770_768771insGTC , LRG_351:g.768770_768771insGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7504+79_7504+80insGTC	ENSP00000507923.1:n.7504+79_7504+80insGTC
ENST00000682358.1:n.7574+79_7574+80insGTC
ENST00000683334.1:c.*3186+79_*3186+80insGTC	ENSP00000507369.1:n.*3186+79_*3186+80insGTC
ENST00000357162.7:c.7429+79_7429+80insGTC MANE Select	ENSP00000349685.2:n.7429+79_7429+80insGTC
ENST00000358544.7:c.7504+79_7504+80insGTC MANE Plus Clinical	ENSP00000351346.2:n.7504+79_7504+80insGTC
ENST00000357162.6:c.7429+79_7429+80insGTC	ENSP00000349685.2:n.7429+79_7429+80insGTC
ENST00000358544.6:c.7504+79_7504+80insGTC	ENSP00000351346.2:n.7504+79_7504+80insGTC
ENST00000518569.1:n.378-1647_378-1646insGTC
NM_017890.4:c.7504+79_7504+80insGTC , LRG_351t1:c.7504+79_7504+80insGTC	NP_060360.3:n.7504+79_7504+80insGTC
NM_152564.4:c.7429+79_7429+80insGTC , LRG_351t2:c.7429+79_7429+80insGTC	NP_689777.3:n.7429+79_7429+80insGTC
XM_005250800.2:c.7504+79_7504+80insGTC	XP_005250857.1:n.7504+79_7504+80insGTC
XM_005250801.3:c.7504+79_7504+80insGTC	XP_005250858.1:n.7504+79_7504+80insGTC
XM_011516848.1:c.7501+79_7501+80insGTC	XP_011515150.1:n.7501+79_7501+80insGTC
XM_011516849.1:c.7426+79_7426+80insGTC	XP_011515151.1:n.7426+79_7426+80insGTC
XM_011516850.1:c.7126+79_7126+80insGTC	XP_011515152.1:n.7126+79_7126+80insGTC
XM_011516851.1:c.4390+79_4390+80insGTC	XP_011515153.1:n.4390+79_4390+80insGTC
XM_011516852.1:c.4390+79_4390+80insGTC	XP_011515154.1:n.4390+79_4390+80insGTC
XM_011516853.1:c.7504+79_7504+80insGTC	XP_011515155.1:n.7504+79_7504+80insGTC
XM_011516854.1:c.3283+79_3283+80insGTC	XP_011515156.1:n.3283+79_3283+80insGTC
XR_928446.1:n.1830+5442_1830+5443insGAC
XM_005250800.3:c.7504+79_7504+80insGTC	XP_005250857.1:n.7504+79_7504+80insGTC
XM_005250801.5:c.7504+79_7504+80insGTC	XP_005250858.1:n.7504+79_7504+80insGTC
XM_011516848.2:c.7501+79_7501+80insGTC	XP_011515150.1:n.7501+79_7501+80insGTC
XM_011516849.2:c.7426+79_7426+80insGTC	XP_011515151.1:n.7426+79_7426+80insGTC
XM_011516850.2:c.7126+79_7126+80insGTC	XP_011515152.1:n.7126+79_7126+80insGTC
XM_011516851.2:c.4390+79_4390+80insGTC	XP_011515153.1:n.4390+79_4390+80insGTC
XM_011516852.2:c.4390+79_4390+80insGTC	XP_011515154.1:n.4390+79_4390+80insGTC
XM_011516853.2:c.7504+79_7504+80insGTC	XP_011515155.1:n.7504+79_7504+80insGTC
XM_011516854.2:c.3283+79_3283+80insGTC	XP_011515156.1:n.3283+79_3283+80insGTC
XM_017013109.1:c.7309+79_7309+80insGTC	XP_016868598.1:n.7309+79_7309+80insGTC
XM_017013111.1:c.4390+79_4390+80insGTC	XP_016868600.1:n.4390+79_4390+80insGTC
XM_017013112.1:c.3061+79_3061+80insGTC	XP_016868601.1:n.3061+79_3061+80insGTC
XM_024447074.1:c.6289+79_6289+80insGTC	XP_024302842.1:n.6289+79_6289+80insGTC
NM_017890.5:c.7504+79_7504+80insGTC MANE Plus Clinical	NP_060360.3:n.7504+79_7504+80insGTC
NM_152564.5:c.7429+79_7429+80insGTC MANE Select	NP_689777.3:n.7429+79_7429+80insGTC