Canonical Allele Identifier: CA2781478427

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99777018_99777019insAGAA , CM000670.2:g.99777018_99777019insAGAA	GRCh38
NC_000008.10:g.100789246_100789247insAGAA , CM000670.1:g.100789246_100789247insAGAA	GRCh37
NC_000008.9:g.100858422_100858423insAGAA	NCBI36
NG_007098.2:g.768753_768754insAGAA , LRG_351:g.768753_768754insAGAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.7504+62_7504+63insAGAA	ENSP00000507923.1:n.7504+62_7504+63insAGAA
ENST00000682358.1:n.7574+62_7574+63insAGAA
ENST00000683334.1:c.*3186+62_*3186+63insAGAA	ENSP00000507369.1:n.*3186+62_*3186+63insAGAA
ENST00000357162.7:c.7429+62_7429+63insAGAA MANE Select	ENSP00000349685.2:n.7429+62_7429+63insAGAA
ENST00000358544.7:c.7504+62_7504+63insAGAA MANE Plus Clinical	ENSP00000351346.2:n.7504+62_7504+63insAGAA
ENST00000357162.6:c.7429+62_7429+63insAGAA	ENSP00000349685.2:n.7429+62_7429+63insAGAA
ENST00000358544.6:c.7504+62_7504+63insAGAA	ENSP00000351346.2:n.7504+62_7504+63insAGAA
ENST00000518569.1:n.378-1664_378-1663insAGAA
NM_017890.4:c.7504+62_7504+63insAGAA , LRG_351t1:c.7504+62_7504+63insAGAA	NP_060360.3:n.7504+62_7504+63insAGAA
NM_152564.4:c.7429+62_7429+63insAGAA , LRG_351t2:c.7429+62_7429+63insAGAA	NP_689777.3:n.7429+62_7429+63insAGAA
XM_005250800.2:c.7504+62_7504+63insAGAA	XP_005250857.1:n.7504+62_7504+63insAGAA
XM_005250801.3:c.7504+62_7504+63insAGAA	XP_005250858.1:n.7504+62_7504+63insAGAA
XM_011516848.1:c.7501+62_7501+63insAGAA	XP_011515150.1:n.7501+62_7501+63insAGAA
XM_011516849.1:c.7426+62_7426+63insAGAA	XP_011515151.1:n.7426+62_7426+63insAGAA
XM_011516850.1:c.7126+62_7126+63insAGAA	XP_011515152.1:n.7126+62_7126+63insAGAA
XM_011516851.1:c.4390+62_4390+63insAGAA	XP_011515153.1:n.4390+62_4390+63insAGAA
XM_011516852.1:c.4390+62_4390+63insAGAA	XP_011515154.1:n.4390+62_4390+63insAGAA
XM_011516853.1:c.7504+62_7504+63insAGAA	XP_011515155.1:n.7504+62_7504+63insAGAA
XM_011516854.1:c.3283+62_3283+63insAGAA	XP_011515156.1:n.3283+62_3283+63insAGAA
XR_928446.1:n.1830+5459_1830+5460insTTCT
XM_005250800.3:c.7504+62_7504+63insAGAA	XP_005250857.1:n.7504+62_7504+63insAGAA
XM_005250801.5:c.7504+62_7504+63insAGAA	XP_005250858.1:n.7504+62_7504+63insAGAA
XM_011516848.2:c.7501+62_7501+63insAGAA	XP_011515150.1:n.7501+62_7501+63insAGAA
XM_011516849.2:c.7426+62_7426+63insAGAA	XP_011515151.1:n.7426+62_7426+63insAGAA
XM_011516850.2:c.7126+62_7126+63insAGAA	XP_011515152.1:n.7126+62_7126+63insAGAA
XM_011516851.2:c.4390+62_4390+63insAGAA	XP_011515153.1:n.4390+62_4390+63insAGAA
XM_011516852.2:c.4390+62_4390+63insAGAA	XP_011515154.1:n.4390+62_4390+63insAGAA
XM_011516853.2:c.7504+62_7504+63insAGAA	XP_011515155.1:n.7504+62_7504+63insAGAA
XM_011516854.2:c.3283+62_3283+63insAGAA	XP_011515156.1:n.3283+62_3283+63insAGAA
XM_017013109.1:c.7309+62_7309+63insAGAA	XP_016868598.1:n.7309+62_7309+63insAGAA
XM_017013111.1:c.4390+62_4390+63insAGAA	XP_016868600.1:n.4390+62_4390+63insAGAA
XM_017013112.1:c.3061+62_3061+63insAGAA	XP_016868601.1:n.3061+62_3061+63insAGAA
XM_024447074.1:c.6289+62_6289+63insAGAA	XP_024302842.1:n.6289+62_6289+63insAGAA
NM_017890.5:c.7504+62_7504+63insAGAA MANE Plus Clinical	NP_060360.3:n.7504+62_7504+63insAGAA
NM_152564.5:c.7429+62_7429+63insAGAA MANE Select	NP_689777.3:n.7429+62_7429+63insAGAA