Canonical Allele Identifier: CA2688072227

Gene: VPS13B COX6C

Linked Data

• gnomAD v4: 8-99875424-G-GGAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875425_99875428dup , CM000670.2:g.99875425_99875428dup	GRCh38
NC_000008.10:g.100887653_100887656dup , CM000670.1:g.100887653_100887656dup	GRCh37
NC_000008.9:g.100956829_100956832dup	NCBI36
NG_007098.2:g.867160_867163dup , LRG_351:g.867160_867163dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*1482_*1485dup (VPS13B)	ENSP00000507923.1:n.*1482_*1485dup
ENST00000682358.1:n.12458_12461dup (VPS13B)
ENST00000683334.1:c.*7510_*7513dup (VPS13B)	ENSP00000507369.1:n.*7510_*7513dup
ENST00000357162.7:c.11753_11756dup (VPS13B) MANE Select	ENSP00000349685.2:p.Arg3920SerfsTer?
ENST00000358544.7:c.11828_11831dup (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Arg3945SerfsTer?
ENST00000357162.6:c.11753_11756dup (VPS13B)	ENSP00000349685.2:p.Arg3920SerfsTer?
ENST00000358544.6:c.11828_11831dup (VPS13B)	ENSP00000351346.2:p.Arg3945SerfsTer?
ENST00000493587.1:n.1330_1333dup (VPS13B)
ENST00000520517.5:c.*142-336_*142-333dup (COX6C)	ENSP00000429991.1:n.*142-336_*142-333dup
ENST00000522934.5:c.*142-2135_*142-2132dup (COX6C)	ENSP00000428702.1:n.*142-2135_*142-2132du...
NM_017890.4:c.11828_11831dup , LRG_351t1:c.11828_11831dup (VPS13B)	NP_060360.3:p.Arg3945SerfsTer?
NM_152564.4:c.11753_11756dup , LRG_351t2:c.11753_11756dup (VPS13B)	NP_689777.3:p.Arg3920SerfsTer?
XM_005250800.2:c.11828_11831dup (VPS13B)	XP_005250857.1:p.Arg3945SerfsTer?
XM_005250801.3:c.11828_11831dup (VPS13B)	XP_005250858.1:p.Arg3945SerfsTer?
XM_011516848.1:c.11825_11828dup (VPS13B)	XP_011515150.1:p.Arg3944SerfsTer?
XM_011516849.1:c.11750_11753dup (VPS13B)	XP_011515151.1:p.Arg3919SerfsTer?
XM_011516850.1:c.11450_11453dup (VPS13B)	XP_011515152.1:p.Arg3819SerfsTer?
XM_011516851.1:c.8714_8717dup (VPS13B)	XP_011515153.1:p.Arg2907SerfsTer?
XM_011516852.1:c.8714_8717dup (VPS13B)	XP_011515154.1:p.Arg2907SerfsTer?
XM_011516854.1:c.7607_7610dup (VPS13B)	XP_011515156.1:p.Arg2538SerfsTer?
XM_005250800.3:c.11828_11831dup (VPS13B)	XP_005250857.1:p.Arg3945SerfsTer?
XM_005250801.5:c.11828_11831dup (VPS13B)	XP_005250858.1:p.Arg3945SerfsTer?
XM_011516848.2:c.11825_11828dup (VPS13B)	XP_011515150.1:p.Arg3944SerfsTer?
XM_011516849.2:c.11750_11753dup (VPS13B)	XP_011515151.1:p.Arg3919SerfsTer?
XM_011516850.2:c.11450_11453dup (VPS13B)	XP_011515152.1:p.Arg3819SerfsTer?
XM_011516851.2:c.8714_8717dup (VPS13B)	XP_011515153.1:p.Arg2907SerfsTer?
XM_011516852.2:c.8714_8717dup (VPS13B)	XP_011515154.1:p.Arg2907SerfsTer?
XM_011516854.2:c.7607_7610dup (VPS13B)	XP_011515156.1:p.Arg2538SerfsTer?
XM_017013109.1:c.11633_11636dup (VPS13B)	XP_016868598.1:p.Arg3880SerfsTer?
XM_017013111.1:c.8714_8717dup (VPS13B)	XP_016868600.1:p.Arg2907SerfsTer?
XM_017013112.1:c.7385_7388dup (VPS13B)	XP_016868601.1:p.Arg2464SerfsTer?
XM_024447074.1:c.10613_10616dup (VPS13B)	XP_024302842.1:p.Arg3540SerfsTer?
NM_017890.5:c.11828_11831dup (VPS13B) MANE Plus Clinical	NP_060360.3:p.Arg3945SerfsTer?
NM_152564.5:c.11753_11756dup (VPS13B) MANE Select	NP_689777.3:p.Arg3920SerfsTer?