Canonical Allele Identifier: CA2688072540

Gene: VPS13B COX6C

Linked Data

• gnomAD v4: 8-99875546-A-AGAACCTCCCCCCTCCACTGTTAAAACATACCATTACCT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875548_99875585dup , CM000670.2:g.99875548_99875585dup	GRCh38
NC_000008.10:g.100887776_100887813dup , CM000670.1:g.100887776_100887813dup	GRCh37
NC_000008.9:g.100956952_100956989dup	NCBI36
NG_007098.2:g.867283_867320dup , LRG_351:g.867283_867320dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1605_*1642dup (VPS13B)	ENSP00000507923.1:n.*1605_*1642dup
ENST00000682358.1:n.12581_12618dup (VPS13B)
ENST00000683334.1:c.*7633_*7670dup (VPS13B)	ENSP00000507369.1:n.*7633_*7670dup
ENST00000357162.7:c.11876_11913dup (VPS13B) MANE Select	ENSP00000349685.2:p.Val3972AsnfsTer29
ENST00000358544.7:c.11951_11988dup (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Val3997AsnfsTer29
ENST00000357162.6:c.11876_11913dup (VPS13B)	ENSP00000349685.2:p.Val3972AsnfsTer29
ENST00000358544.6:c.11951_11988dup (VPS13B)	ENSP00000351346.2:p.Val3997AsnfsTer29
ENST00000493587.1:n.1453_1490dup (VPS13B)
ENST00000520517.5:c.*142-492_*142-455dup (COX6C)	ENSP00000429991.1:n.*142-492_*142-455dup
ENST00000522934.5:c.*142-2291_*142-2254dup (COX6C)	ENSP00000428702.1:n.*142-2291_*142-2254dup
NM_017890.4:c.11951_11988dup , LRG_351t1:c.11951_11988dup (VPS13B)	NP_060360.3:p.Val3997AsnfsTer29
NM_152564.4:c.11876_11913dup , LRG_351t2:c.11876_11913dup (VPS13B)	NP_689777.3:p.Val3972AsnfsTer29
XM_005250800.2:c.11951_11988dup (VPS13B)	XP_005250857.1:p.Val3997AsnfsTer29
XM_005250801.3:c.11951_11988dup (VPS13B)	XP_005250858.1:p.Val3997AsnfsTer29
XM_011516848.1:c.11948_11985dup (VPS13B)	XP_011515150.1:p.Val3996AsnfsTer29
XM_011516849.1:c.11873_11910dup (VPS13B)	XP_011515151.1:p.Val3971AsnfsTer29
XM_011516850.1:c.11573_11610dup (VPS13B)	XP_011515152.1:p.Val3871AsnfsTer29
XM_011516851.1:c.8837_8874dup (VPS13B)	XP_011515153.1:p.Val2959AsnfsTer29
XM_011516852.1:c.8837_8874dup (VPS13B)	XP_011515154.1:p.Val2959AsnfsTer29
XM_011516854.1:c.7730_7767dup (VPS13B)	XP_011515156.1:p.Val2590AsnfsTer29
XM_005250800.3:c.11951_11988dup (VPS13B)	XP_005250857.1:p.Val3997AsnfsTer29
XM_005250801.5:c.11951_11988dup (VPS13B)	XP_005250858.1:p.Val3997AsnfsTer29
XM_011516848.2:c.11948_11985dup (VPS13B)	XP_011515150.1:p.Val3996AsnfsTer29
XM_011516849.2:c.11873_11910dup (VPS13B)	XP_011515151.1:p.Val3971AsnfsTer29
XM_011516850.2:c.11573_11610dup (VPS13B)	XP_011515152.1:p.Val3871AsnfsTer29
XM_011516851.2:c.8837_8874dup (VPS13B)	XP_011515153.1:p.Val2959AsnfsTer29
XM_011516852.2:c.8837_8874dup (VPS13B)	XP_011515154.1:p.Val2959AsnfsTer29
XM_011516854.2:c.7730_7767dup (VPS13B)	XP_011515156.1:p.Val2590AsnfsTer29
XM_017013109.1:c.11756_11793dup (VPS13B)	XP_016868598.1:p.Val3932AsnfsTer29
XM_017013111.1:c.8837_8874dup (VPS13B)	XP_016868600.1:p.Val2959AsnfsTer29
XM_017013112.1:c.7508_7545dup (VPS13B)	XP_016868601.1:p.Val2516AsnfsTer29
XM_024447074.1:c.10736_10773dup (VPS13B)	XP_024302842.1:p.Val3592AsnfsTer29
NM_017890.5:c.11951_11988dup (VPS13B) MANE Plus Clinical	NP_060360.3:p.Val3997AsnfsTer29
NM_152564.5:c.11876_11913dup (VPS13B) MANE Select	NP_689777.3:p.Val3972AsnfsTer29