Canonical Allele Identifier: CA4825370

Gene: VPS13B COX6C

Linked Data

• dbSNP Id: rs776781464
• ExAC: 8:100887792 T / TGTTA
• gnomAD v2: 8-100887792-T-TGTTA
• gnomAD v4: 8-99875564-T-TGTTA
• MyVariant Identifiers: chr8:g.100887792_100887793insGTTA (hg19) ; chr8:g.99875564_99875565insGTTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875565_99875568dup , CM000670.2:g.99875565_99875568dup	GRCh38
NC_000008.10:g.100887793_100887796dup , CM000670.1:g.100887793_100887796dup	GRCh37
NC_000008.9:g.100956969_100956972dup	NCBI36
NG_007098.2:g.867300_867303dup , LRG_351:g.867300_867303dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*1622_*1625dup (VPS13B)	ENSP00000507923.1:n.*1622_*1625dup
ENST00000682358.1:n.12598_12601dup (VPS13B)
ENST00000683334.1:c.*7650_*7653dup (VPS13B)	ENSP00000507369.1:n.*7650_*7653dup
ENST00000357162.7:c.11893_11896dup (VPS13B) MANE Select	ENSP00000349685.2:p.Lys3966SerfsTer2
ENST00000358544.7:c.11968_11971dup (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Lys3991SerfsTer2
ENST00000357162.6:c.11893_11896dup (VPS13B)	ENSP00000349685.2:p.Lys3966SerfsTer2
ENST00000358544.6:c.11968_11971dup (VPS13B)	ENSP00000351346.2:p.Lys3991SerfsTer2
ENST00000493587.1:n.1470_1473dup (VPS13B)
ENST00000520517.5:c.*142-476_*142-473dup (COX6C)	ENSP00000429991.1:n.*142-476_*142-473dup
ENST00000522934.5:c.*142-2275_*142-2272dup (COX6C)	ENSP00000428702.1:n.*142-2275_*142-2272du...
NM_017890.4:c.11968_11971dup , LRG_351t1:c.11968_11971dup (VPS13B)	NP_060360.3:p.Lys3991SerfsTer2
NM_152564.4:c.11893_11896dup , LRG_351t2:c.11893_11896dup (VPS13B)	NP_689777.3:p.Lys3966SerfsTer2
XM_005250800.2:c.11968_11971dup (VPS13B)	XP_005250857.1:p.Lys3991SerfsTer2
XM_005250801.3:c.11968_11971dup (VPS13B)	XP_005250858.1:p.Lys3991SerfsTer2
XM_011516848.1:c.11965_11968dup (VPS13B)	XP_011515150.1:p.Lys3990SerfsTer2
XM_011516849.1:c.11890_11893dup (VPS13B)	XP_011515151.1:p.Lys3965SerfsTer2
XM_011516850.1:c.11590_11593dup (VPS13B)	XP_011515152.1:p.Lys3865SerfsTer2
XM_011516851.1:c.8854_8857dup (VPS13B)	XP_011515153.1:p.Lys2953SerfsTer2
XM_011516852.1:c.8854_8857dup (VPS13B)	XP_011515154.1:p.Lys2953SerfsTer2
XM_011516854.1:c.7747_7750dup (VPS13B)	XP_011515156.1:p.Lys2584SerfsTer2
XM_005250800.3:c.11968_11971dup (VPS13B)	XP_005250857.1:p.Lys3991SerfsTer2
XM_005250801.5:c.11968_11971dup (VPS13B)	XP_005250858.1:p.Lys3991SerfsTer2
XM_011516848.2:c.11965_11968dup (VPS13B)	XP_011515150.1:p.Lys3990SerfsTer2
XM_011516849.2:c.11890_11893dup (VPS13B)	XP_011515151.1:p.Lys3965SerfsTer2
XM_011516850.2:c.11590_11593dup (VPS13B)	XP_011515152.1:p.Lys3865SerfsTer2
XM_011516851.2:c.8854_8857dup (VPS13B)	XP_011515153.1:p.Lys2953SerfsTer2
XM_011516852.2:c.8854_8857dup (VPS13B)	XP_011515154.1:p.Lys2953SerfsTer2
XM_011516854.2:c.7747_7750dup (VPS13B)	XP_011515156.1:p.Lys2584SerfsTer2
XM_017013109.1:c.11773_11776dup (VPS13B)	XP_016868598.1:p.Lys3926SerfsTer2
XM_017013111.1:c.8854_8857dup (VPS13B)	XP_016868600.1:p.Lys2953SerfsTer2
XM_017013112.1:c.7525_7528dup (VPS13B)	XP_016868601.1:p.Lys2510SerfsTer2
XM_024447074.1:c.10753_10756dup (VPS13B)	XP_024302842.1:p.Lys3586SerfsTer2
NM_017890.5:c.11968_11971dup (VPS13B) MANE Plus Clinical	NP_060360.3:p.Lys3991SerfsTer2
NM_152564.5:c.11893_11896dup (VPS13B) MANE Select	NP_689777.3:p.Lys3966SerfsTer2