Canonical Allele Identifier: CA2843184871

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861876dup , CM000670.2:g.99861876dup	GRCh38
NC_000008.10:g.100874104dup , CM000670.1:g.100874104dup	GRCh37
NC_000008.9:g.100943280dup	NCBI36
NG_007098.2:g.853611dup , LRG_351:g.853611dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*314dup	ENSP00000507923.1:n.*314dup
ENST00000682358.1:n.11290dup
ENST00000683334.1:c.*6902dup	ENSP00000507369.1:n.*6902dup
ENST00000357162.7:c.11145dup MANE Select	ENSP00000349685.2:p.Arg3716AlafsTer?
ENST00000358544.7:c.11220dup MANE Plus Clinical	ENSP00000351346.2:p.Arg3741AlafsTer?
ENST00000357162.6:c.11145dup	ENSP00000349685.2:p.Arg3716AlafsTer?
ENST00000358544.6:c.11220dup	ENSP00000351346.2:p.Arg3741AlafsTer?
NM_017890.4:c.11220dup , LRG_351t1:c.11220dup	NP_060360.3:p.Arg3741AlafsTer?
NM_152564.4:c.11145dup , LRG_351t2:c.11145dup	NP_689777.3:p.Arg3716AlafsTer?
XM_005250800.2:c.11220dup	XP_005250857.1:p.Arg3741AlafsTer?
XM_005250801.3:c.11220dup	XP_005250858.1:p.Arg3741AlafsTer?
XM_011516848.1:c.11217dup	XP_011515150.1:p.Arg3740AlafsTer?
XM_011516849.1:c.11142dup	XP_011515151.1:p.Arg3715AlafsTer?
XM_011516850.1:c.10842dup	XP_011515152.1:p.Arg3615AlafsTer?
XM_011516851.1:c.8106dup	XP_011515153.1:p.Arg2703AlafsTer?
XM_011516852.1:c.8106dup	XP_011515154.1:p.Arg2703AlafsTer?
XM_011516854.1:c.6999dup	XP_011515156.1:p.Arg2334AlafsTer?
XM_005250800.3:c.11220dup	XP_005250857.1:p.Arg3741AlafsTer?
XM_005250801.5:c.11220dup	XP_005250858.1:p.Arg3741AlafsTer?
XM_011516848.2:c.11217dup	XP_011515150.1:p.Arg3740AlafsTer?
XM_011516849.2:c.11142dup	XP_011515151.1:p.Arg3715AlafsTer?
XM_011516850.2:c.10842dup	XP_011515152.1:p.Arg3615AlafsTer?
XM_011516851.2:c.8106dup	XP_011515153.1:p.Arg2703AlafsTer?
XM_011516852.2:c.8106dup	XP_011515154.1:p.Arg2703AlafsTer?
XM_011516854.2:c.6999dup	XP_011515156.1:p.Arg2334AlafsTer?
XM_017013109.1:c.11025dup	XP_016868598.1:p.Arg3676AlafsTer?
XM_017013111.1:c.8106dup	XP_016868600.1:p.Arg2703AlafsTer?
XM_017013112.1:c.6777dup	XP_016868601.1:p.Arg2260AlafsTer?
XM_024447074.1:c.10005dup	XP_024302842.1:p.Arg3336AlafsTer?
NM_017890.5:c.11220dup MANE Plus Clinical	NP_060360.3:p.Arg3741AlafsTer?
NM_152564.5:c.11145dup MANE Select	NP_689777.3:p.Arg3716AlafsTer?