Canonical Allele Identifier: CA10576250

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99853554_99853596del , CM000670.2:g.99853554_99853596del	GRCh38
NC_000008.10:g.100865782_100865824del , CM000670.1:g.100865782_100865824del	GRCh37
NC_000008.9:g.100934958_100935000del	NCBI36
NG_007098.2:g.845289_845331del , LRG_351:g.845289_845331del

Transcript Alleles

HGVS	Amino-acid Change
NM_152564.5:c.10165_10207del MANE Select	NP_689777.3:p.Leu3389ValfsTer27
ENST00000357162.7:c.10165_10207del MANE Select	ENSP00000349685.2:p.Leu3389ValfsTer27
NM_017890.5:c.10240_10282del MANE Plus Clinical	NP_060360.3:p.Leu3414ValfsTer27
ENST00000358544.7:c.10240_10282del MANE Plus Clinical	ENSP00000351346.2:p.Leu3414ValfsTer27
NM_017890.4:c.10240_10282del , LRG_351t1:c.10240_10282del	NP_060360.3:p.Leu3414ValfsTer27
NM_152564.4:c.10165_10207del , LRG_351t2:c.10165_10207del	NP_689777.3:p.Leu3389ValfsTer27
ENST00000357162.6:c.10165_10207del	ENSP00000349685.2:p.Leu3389ValfsTer27
ENST00000358544.6:c.10240_10282del	ENSP00000351346.2:p.Leu3414ValfsTer27
ENST00000682153.1:c.10240_10282del	ENSP00000507923.1:p.Leu3414ValfsTer27
ENST00000682358.1:n.10310_10352del
ENST00000683334.1:c.*5922_*5964del	ENSP00000507369.1:n.*5922_*5964del
XM_005250800.2:c.10240_10282del	XP_005250857.1:p.Leu3414ValfsTer27
XM_005250800.3:c.10240_10282del	XP_005250857.1:p.Leu3414ValfsTer27
XM_005250801.3:c.10240_10282del	XP_005250858.1:p.Leu3414ValfsTer27
XM_005250801.5:c.10240_10282del	XP_005250858.1:p.Leu3414ValfsTer27
XM_011516848.1:c.10237_10279del	XP_011515150.1:p.Leu3413ValfsTer27
XM_011516848.2:c.10237_10279del	XP_011515150.1:p.Leu3413ValfsTer27
XM_011516849.1:c.10162_10204del	XP_011515151.1:p.Leu3388ValfsTer27
XM_011516849.2:c.10162_10204del	XP_011515151.1:p.Leu3388ValfsTer27
XM_011516850.1:c.9862_9904del	XP_011515152.1:p.Leu3288ValfsTer27
XM_011516850.2:c.9862_9904del	XP_011515152.1:p.Leu3288ValfsTer27
XM_011516851.1:c.7126_7168del	XP_011515153.1:p.Leu2376ValfsTer27
XM_011516851.2:c.7126_7168del	XP_011515153.1:p.Leu2376ValfsTer27
XM_011516852.1:c.7126_7168del	XP_011515154.1:p.Leu2376ValfsTer27
XM_011516852.2:c.7126_7168del	XP_011515154.1:p.Leu2376ValfsTer27
XM_011516854.1:c.6019_6061del	XP_011515156.1:p.Leu2007ValfsTer27
XM_011516854.2:c.6019_6061del	XP_011515156.1:p.Leu2007ValfsTer27
XM_017013109.1:c.10045_10087del	XP_016868598.1:p.Leu3349ValfsTer27
XM_017013111.1:c.7126_7168del	XP_016868600.1:p.Leu2376ValfsTer27
XM_017013112.1:c.5797_5839del	XP_016868601.1:p.Leu1933ValfsTer27
XM_024447074.1:c.9025_9067del	XP_024302842.1:p.Leu3009ValfsTer27