Canonical Allele Identifier: CA2688072326

Gene: VPS13B COX6C

Linked Data

• gnomAD v4: 8-99875462-A-ACTGGTGGACTACATCACAAAGACATCTTGTCACCTGGCCCCCAGCTGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875465_99875513dup , CM000670.2:g.99875465_99875513dup	GRCh38
NC_000008.10:g.100887693_100887741dup , CM000670.1:g.100887693_100887741dup	GRCh37
NC_000008.9:g.100956869_100956917dup	NCBI36
NG_007098.2:g.867200_867248dup , LRG_351:g.867200_867248dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1522_*1570dup (VPS13B)	ENSP00000507923.1:n.*1522_*1570dup
ENST00000682358.1:n.12498_12546dup (VPS13B)
ENST00000683334.1:c.*7550_*7598dup (VPS13B)	ENSP00000507369.1:n.*7550_*7598dup
ENST00000357162.7:c.11793_11841dup (VPS13B) MANE Select	ENSP00000349685.2:p.Ser3948GlyfsTer35
ENST00000358544.7:c.11868_11916dup (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Ser3973GlyfsTer35
ENST00000357162.6:c.11793_11841dup (VPS13B)	ENSP00000349685.2:p.Ser3948GlyfsTer35
ENST00000358544.6:c.11868_11916dup (VPS13B)	ENSP00000351346.2:p.Ser3973GlyfsTer35
ENST00000493587.1:n.1370_1418dup (VPS13B)
ENST00000520517.5:c.*142-419_*142-371dup (COX6C)	ENSP00000429991.1:n.*142-419_*142-371dup
ENST00000522934.5:c.*142-2218_*142-2170dup (COX6C)	ENSP00000428702.1:n.*142-2218_*142-2170dup
NM_017890.4:c.11868_11916dup , LRG_351t1:c.11868_11916dup (VPS13B)	NP_060360.3:p.Ser3973GlyfsTer35
NM_152564.4:c.11793_11841dup , LRG_351t2:c.11793_11841dup (VPS13B)	NP_689777.3:p.Ser3948GlyfsTer35
XM_005250800.2:c.11868_11916dup (VPS13B)	XP_005250857.1:p.Ser3973GlyfsTer35
XM_005250801.3:c.11868_11916dup (VPS13B)	XP_005250858.1:p.Ser3973GlyfsTer35
XM_011516848.1:c.11865_11913dup (VPS13B)	XP_011515150.1:p.Ser3972GlyfsTer35
XM_011516849.1:c.11790_11838dup (VPS13B)	XP_011515151.1:p.Ser3947GlyfsTer35
XM_011516850.1:c.11490_11538dup (VPS13B)	XP_011515152.1:p.Ser3847GlyfsTer35
XM_011516851.1:c.8754_8802dup (VPS13B)	XP_011515153.1:p.Ser2935GlyfsTer35
XM_011516852.1:c.8754_8802dup (VPS13B)	XP_011515154.1:p.Ser2935GlyfsTer35
XM_011516854.1:c.7647_7695dup (VPS13B)	XP_011515156.1:p.Ser2566GlyfsTer35
XM_005250800.3:c.11868_11916dup (VPS13B)	XP_005250857.1:p.Ser3973GlyfsTer35
XM_005250801.5:c.11868_11916dup (VPS13B)	XP_005250858.1:p.Ser3973GlyfsTer35
XM_011516848.2:c.11865_11913dup (VPS13B)	XP_011515150.1:p.Ser3972GlyfsTer35
XM_011516849.2:c.11790_11838dup (VPS13B)	XP_011515151.1:p.Ser3947GlyfsTer35
XM_011516850.2:c.11490_11538dup (VPS13B)	XP_011515152.1:p.Ser3847GlyfsTer35
XM_011516851.2:c.8754_8802dup (VPS13B)	XP_011515153.1:p.Ser2935GlyfsTer35
XM_011516852.2:c.8754_8802dup (VPS13B)	XP_011515154.1:p.Ser2935GlyfsTer35
XM_011516854.2:c.7647_7695dup (VPS13B)	XP_011515156.1:p.Ser2566GlyfsTer35
XM_017013109.1:c.11673_11721dup (VPS13B)	XP_016868598.1:p.Ser3908GlyfsTer35
XM_017013111.1:c.8754_8802dup (VPS13B)	XP_016868600.1:p.Ser2935GlyfsTer35
XM_017013112.1:c.7425_7473dup (VPS13B)	XP_016868601.1:p.Ser2492GlyfsTer35
XM_024447074.1:c.10653_10701dup (VPS13B)	XP_024302842.1:p.Ser3568GlyfsTer35
NM_017890.5:c.11868_11916dup (VPS13B) MANE Plus Clinical	NP_060360.3:p.Ser3973GlyfsTer35
NM_152564.5:c.11793_11841dup (VPS13B) MANE Select	NP_689777.3:p.Ser3948GlyfsTer35