Canonical Allele Identifier: CA916081512

Gene: VPS13B COX6C

Linked Data

• ClinVar Variation Id: 861389
• ClinVar RCV Id: RCV001067905
• dbSNP Id: rs1817657601

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875511_99875514dup , CM000670.2:g.99875511_99875514dup	GRCh38
NC_000008.10:g.100887739_100887742dup , CM000670.1:g.100887739_100887742dup	GRCh37
NC_000008.9:g.100956915_100956918dup	NCBI36
NG_007098.2:g.867246_867249dup , LRG_351:g.867246_867249dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1568_*1571dup (VPS13B)	ENSP00000507923.1:n.*1568_*1571dup
ENST00000682358.1:n.12544_12547dup (VPS13B)
ENST00000683334.1:c.*7596_*7599dup (VPS13B)	ENSP00000507369.1:n.*7596_*7599dup
ENST00000357162.7:c.11839_11842dup (VPS13B) MANE Select	ENSP00000349685.2:p.Ser3948PhefsTer20
ENST00000358544.7:c.11914_11917dup (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Ser3973PhefsTer20
ENST00000357162.6:c.11839_11842dup (VPS13B)	ENSP00000349685.2:p.Ser3948PhefsTer20
ENST00000358544.6:c.11914_11917dup (VPS13B)	ENSP00000351346.2:p.Ser3973PhefsTer20
ENST00000493587.1:n.1416_1419dup (VPS13B)
ENST00000520517.5:c.*142-421_*142-418dup (COX6C)	ENSP00000429991.1:n.*142-421_*142-418dup
ENST00000522934.5:c.*142-2220_*142-2217dup (COX6C)	ENSP00000428702.1:n.*142-2220_*142-2217dup
NM_017890.4:c.11914_11917dup , LRG_351t1:c.11914_11917dup (VPS13B)	NP_060360.3:p.Ser3973PhefsTer20
NM_152564.4:c.11839_11842dup , LRG_351t2:c.11839_11842dup (VPS13B)	NP_689777.3:p.Ser3948PhefsTer20
XM_005250800.2:c.11914_11917dup (VPS13B)	XP_005250857.1:p.Ser3973PhefsTer20
XM_005250801.3:c.11914_11917dup (VPS13B)	XP_005250858.1:p.Ser3973PhefsTer20
XM_011516848.1:c.11911_11914dup (VPS13B)	XP_011515150.1:p.Ser3972PhefsTer20
XM_011516849.1:c.11836_11839dup (VPS13B)	XP_011515151.1:p.Ser3947PhefsTer20
XM_011516850.1:c.11536_11539dup (VPS13B)	XP_011515152.1:p.Ser3847PhefsTer20
XM_011516851.1:c.8800_8803dup (VPS13B)	XP_011515153.1:p.Ser2935PhefsTer20
XM_011516852.1:c.8800_8803dup (VPS13B)	XP_011515154.1:p.Ser2935PhefsTer20
XM_011516854.1:c.7693_7696dup (VPS13B)	XP_011515156.1:p.Ser2566PhefsTer20
XM_005250800.3:c.11914_11917dup (VPS13B)	XP_005250857.1:p.Ser3973PhefsTer20
XM_005250801.5:c.11914_11917dup (VPS13B)	XP_005250858.1:p.Ser3973PhefsTer20
XM_011516848.2:c.11911_11914dup (VPS13B)	XP_011515150.1:p.Ser3972PhefsTer20
XM_011516849.2:c.11836_11839dup (VPS13B)	XP_011515151.1:p.Ser3947PhefsTer20
XM_011516850.2:c.11536_11539dup (VPS13B)	XP_011515152.1:p.Ser3847PhefsTer20
XM_011516851.2:c.8800_8803dup (VPS13B)	XP_011515153.1:p.Ser2935PhefsTer20
XM_011516852.2:c.8800_8803dup (VPS13B)	XP_011515154.1:p.Ser2935PhefsTer20
XM_011516854.2:c.7693_7696dup (VPS13B)	XP_011515156.1:p.Ser2566PhefsTer20
XM_017013109.1:c.11719_11722dup (VPS13B)	XP_016868598.1:p.Ser3908PhefsTer20
XM_017013111.1:c.8800_8803dup (VPS13B)	XP_016868600.1:p.Ser2935PhefsTer20
XM_017013112.1:c.7471_7474dup (VPS13B)	XP_016868601.1:p.Ser2492PhefsTer20
XM_024447074.1:c.10699_10702dup (VPS13B)	XP_024302842.1:p.Ser3568PhefsTer20
NM_017890.5:c.11914_11917dup (VPS13B) MANE Plus Clinical	NP_060360.3:p.Ser3973PhefsTer20
NM_152564.5:c.11839_11842dup (VPS13B) MANE Select	NP_689777.3:p.Ser3948PhefsTer20