Canonical Allele Identifier: CA2545929652

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99777094_99777095insAT , CM000670.2:g.99777094_99777095insAT	GRCh38
NC_000008.10:g.100789322_100789323insAT , CM000670.1:g.100789322_100789323insAT	GRCh37
NC_000008.9:g.100858498_100858499insAT	NCBI36
NG_007098.2:g.768829_768830insAT , LRG_351:g.768829_768830insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7504+138_7504+139insAT	ENSP00000507923.1:n.7504+138_7504+139insAT
ENST00000682358.1:n.7574+138_7574+139insAT
ENST00000683334.1:c.*3186+138_*3186+139insAT	ENSP00000507369.1:n.*3186+138_*3186+139insAT
ENST00000357162.7:c.7429+138_7429+139insAT MANE Select	ENSP00000349685.2:n.7429+138_7429+139insAT
ENST00000358544.7:c.7504+138_7504+139insAT MANE Plus Clinical	ENSP00000351346.2:n.7504+138_7504+139insAT
ENST00000357162.6:c.7429+138_7429+139insAT	ENSP00000349685.2:n.7429+138_7429+139insAT
ENST00000358544.6:c.7504+138_7504+139insAT	ENSP00000351346.2:n.7504+138_7504+139insAT
ENST00000518569.1:n.378-1588_378-1587insAT
NM_017890.4:c.7504+138_7504+139insAT , LRG_351t1:c.7504+138_7504+139insAT	NP_060360.3:n.7504+138_7504+139insAT
NM_152564.4:c.7429+138_7429+139insAT , LRG_351t2:c.7429+138_7429+139insAT	NP_689777.3:n.7429+138_7429+139insAT
XM_005250800.2:c.7504+138_7504+139insAT	XP_005250857.1:n.7504+138_7504+139insAT
XM_005250801.3:c.7504+138_7504+139insAT	XP_005250858.1:n.7504+138_7504+139insAT
XM_011516848.1:c.7501+138_7501+139insAT	XP_011515150.1:n.7501+138_7501+139insAT
XM_011516849.1:c.7426+138_7426+139insAT	XP_011515151.1:n.7426+138_7426+139insAT
XM_011516850.1:c.7126+138_7126+139insAT	XP_011515152.1:n.7126+138_7126+139insAT
XM_011516851.1:c.4390+138_4390+139insAT	XP_011515153.1:n.4390+138_4390+139insAT
XM_011516852.1:c.4390+138_4390+139insAT	XP_011515154.1:n.4390+138_4390+139insAT
XM_011516853.1:c.7504+138_7504+139insAT	XP_011515155.1:n.7504+138_7504+139insAT
XM_011516854.1:c.3283+138_3283+139insAT	XP_011515156.1:n.3283+138_3283+139insAT
XR_928446.1:n.1830+5383_1830+5384insAT
XM_005250800.3:c.7504+138_7504+139insAT	XP_005250857.1:n.7504+138_7504+139insAT
XM_005250801.5:c.7504+138_7504+139insAT	XP_005250858.1:n.7504+138_7504+139insAT
XM_011516848.2:c.7501+138_7501+139insAT	XP_011515150.1:n.7501+138_7501+139insAT
XM_011516849.2:c.7426+138_7426+139insAT	XP_011515151.1:n.7426+138_7426+139insAT
XM_011516850.2:c.7126+138_7126+139insAT	XP_011515152.1:n.7126+138_7126+139insAT
XM_011516851.2:c.4390+138_4390+139insAT	XP_011515153.1:n.4390+138_4390+139insAT
XM_011516852.2:c.4390+138_4390+139insAT	XP_011515154.1:n.4390+138_4390+139insAT
XM_011516853.2:c.7504+138_7504+139insAT	XP_011515155.1:n.7504+138_7504+139insAT
XM_011516854.2:c.3283+138_3283+139insAT	XP_011515156.1:n.3283+138_3283+139insAT
XM_017013109.1:c.7309+138_7309+139insAT	XP_016868598.1:n.7309+138_7309+139insAT
XM_017013111.1:c.4390+138_4390+139insAT	XP_016868600.1:n.4390+138_4390+139insAT
XM_017013112.1:c.3061+138_3061+139insAT	XP_016868601.1:n.3061+138_3061+139insAT
XM_024447074.1:c.6289+138_6289+139insAT	XP_024302842.1:n.6289+138_6289+139insAT
NM_017890.5:c.7504+138_7504+139insAT MANE Plus Clinical	NP_060360.3:n.7504+138_7504+139insAT
NM_152564.5:c.7429+138_7429+139insAT MANE Select	NP_689777.3:n.7429+138_7429+139insAT