Canonical Allele Identifier: CA2781478495

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99777071_99777073del , CM000670.2:g.99777071_99777073del	GRCh38
NC_000008.10:g.100789299_100789301del , CM000670.1:g.100789299_100789301del	GRCh37
NC_000008.9:g.100858475_100858477del	NCBI36
NG_007098.2:g.768806_768808del , LRG_351:g.768806_768808del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7504+115_7504+117del	ENSP00000507923.1:n.7504+115_7504+117del
ENST00000682358.1:n.7574+115_7574+117del
ENST00000683334.1:c.*3186+115_*3186+117del	ENSP00000507369.1:n.*3186+115_*3186+117del
ENST00000357162.7:c.7429+115_7429+117del MANE Select	ENSP00000349685.2:n.7429+115_7429+117del
ENST00000358544.7:c.7504+115_7504+117del MANE Plus Clinical	ENSP00000351346.2:n.7504+115_7504+117del
ENST00000357162.6:c.7429+115_7429+117del	ENSP00000349685.2:n.7429+115_7429+117del
ENST00000358544.6:c.7504+115_7504+117del	ENSP00000351346.2:n.7504+115_7504+117del
ENST00000518569.1:n.378-1611_378-1609del
NM_017890.4:c.7504+115_7504+117del , LRG_351t1:c.7504+115_7504+117del	NP_060360.3:n.7504+115_7504+117del
NM_152564.4:c.7429+115_7429+117del , LRG_351t2:c.7429+115_7429+117del	NP_689777.3:n.7429+115_7429+117del
XM_005250800.2:c.7504+115_7504+117del	XP_005250857.1:n.7504+115_7504+117del
XM_005250801.3:c.7504+115_7504+117del	XP_005250858.1:n.7504+115_7504+117del
XM_011516848.1:c.7501+115_7501+117del	XP_011515150.1:n.7501+115_7501+117del
XM_011516849.1:c.7426+115_7426+117del	XP_011515151.1:n.7426+115_7426+117del
XM_011516850.1:c.7126+115_7126+117del	XP_011515152.1:n.7126+115_7126+117del
XM_011516851.1:c.4390+115_4390+117del	XP_011515153.1:n.4390+115_4390+117del
XM_011516852.1:c.4390+115_4390+117del	XP_011515154.1:n.4390+115_4390+117del
XM_011516853.1:c.7504+115_7504+117del	XP_011515155.1:n.7504+115_7504+117del
XM_011516854.1:c.3283+115_3283+117del	XP_011515156.1:n.3283+115_3283+117del
XR_928446.1:n.1830+5405_1830+5407del
XM_005250800.3:c.7504+115_7504+117del	XP_005250857.1:n.7504+115_7504+117del
XM_005250801.5:c.7504+115_7504+117del	XP_005250858.1:n.7504+115_7504+117del
XM_011516848.2:c.7501+115_7501+117del	XP_011515150.1:n.7501+115_7501+117del
XM_011516849.2:c.7426+115_7426+117del	XP_011515151.1:n.7426+115_7426+117del
XM_011516850.2:c.7126+115_7126+117del	XP_011515152.1:n.7126+115_7126+117del
XM_011516851.2:c.4390+115_4390+117del	XP_011515153.1:n.4390+115_4390+117del
XM_011516852.2:c.4390+115_4390+117del	XP_011515154.1:n.4390+115_4390+117del
XM_011516853.2:c.7504+115_7504+117del	XP_011515155.1:n.7504+115_7504+117del
XM_011516854.2:c.3283+115_3283+117del	XP_011515156.1:n.3283+115_3283+117del
XM_017013109.1:c.7309+115_7309+117del	XP_016868598.1:n.7309+115_7309+117del
XM_017013111.1:c.4390+115_4390+117del	XP_016868600.1:n.4390+115_4390+117del
XM_017013112.1:c.3061+115_3061+117del	XP_016868601.1:n.3061+115_3061+117del
XM_024447074.1:c.6289+115_6289+117del	XP_024302842.1:n.6289+115_6289+117del
NM_017890.5:c.7504+115_7504+117del MANE Plus Clinical	NP_060360.3:n.7504+115_7504+117del
NM_152564.5:c.7429+115_7429+117del MANE Select	NP_689777.3:n.7429+115_7429+117del