Canonical Allele Identifier: CA1117131704

Gene: VPS13B COX6C

Linked Data

• dbSNP Id: rs1817654938
• gnomAD v3: 8-99875472-T-TA
• gnomAD v4: 8-99875472-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875473dup , CM000670.2:g.99875473dup	GRCh38
NC_000008.10:g.100887701dup , CM000670.1:g.100887701dup	GRCh37
NC_000008.9:g.100956877dup	NCBI36
NG_007098.2:g.867208dup , LRG_351:g.867208dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1530dup (VPS13B)	ENSP00000507923.1:n.*1530dup
ENST00000682358.1:n.12506dup (VPS13B)
ENST00000683334.1:c.*7558dup (VPS13B)	ENSP00000507369.1:n.*7558dup
ENST00000357162.7:c.11801dup (VPS13B) MANE Select	ENSP00000349685.2:p.Tyr3934Ter
ENST00000358544.7:c.11876dup (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Tyr3959Ter
ENST00000357162.6:c.11801dup (VPS13B)	ENSP00000349685.2:p.Tyr3934Ter
ENST00000358544.6:c.11876dup (VPS13B)	ENSP00000351346.2:p.Tyr3959Ter
ENST00000493587.1:n.1378dup (VPS13B)
ENST00000520517.5:c.*142-381dup (COX6C)	ENSP00000429991.1:n.*142-381dup
ENST00000522934.5:c.*142-2180dup (COX6C)	ENSP00000428702.1:n.*142-2180dup
NM_017890.4:c.11876dup , LRG_351t1:c.11876dup (VPS13B)	NP_060360.3:p.Tyr3959Ter
NM_152564.4:c.11801dup , LRG_351t2:c.11801dup (VPS13B)	NP_689777.3:p.Tyr3934Ter
XM_005250800.2:c.11876dup (VPS13B)	XP_005250857.1:p.Tyr3959Ter
XM_005250801.3:c.11876dup (VPS13B)	XP_005250858.1:p.Tyr3959Ter
XM_011516848.1:c.11873dup (VPS13B)	XP_011515150.1:p.Tyr3958Ter
XM_011516849.1:c.11798dup (VPS13B)	XP_011515151.1:p.Tyr3933Ter
XM_011516850.1:c.11498dup (VPS13B)	XP_011515152.1:p.Tyr3833Ter
XM_011516851.1:c.8762dup (VPS13B)	XP_011515153.1:p.Tyr2921Ter
XM_011516852.1:c.8762dup (VPS13B)	XP_011515154.1:p.Tyr2921Ter
XM_011516854.1:c.7655dup (VPS13B)	XP_011515156.1:p.Tyr2552Ter
XM_005250800.3:c.11876dup (VPS13B)	XP_005250857.1:p.Tyr3959Ter
XM_005250801.5:c.11876dup (VPS13B)	XP_005250858.1:p.Tyr3959Ter
XM_011516848.2:c.11873dup (VPS13B)	XP_011515150.1:p.Tyr3958Ter
XM_011516849.2:c.11798dup (VPS13B)	XP_011515151.1:p.Tyr3933Ter
XM_011516850.2:c.11498dup (VPS13B)	XP_011515152.1:p.Tyr3833Ter
XM_011516851.2:c.8762dup (VPS13B)	XP_011515153.1:p.Tyr2921Ter
XM_011516852.2:c.8762dup (VPS13B)	XP_011515154.1:p.Tyr2921Ter
XM_011516854.2:c.7655dup (VPS13B)	XP_011515156.1:p.Tyr2552Ter
XM_017013109.1:c.11681dup (VPS13B)	XP_016868598.1:p.Tyr3894Ter
XM_017013111.1:c.8762dup (VPS13B)	XP_016868600.1:p.Tyr2921Ter
XM_017013112.1:c.7433dup (VPS13B)	XP_016868601.1:p.Tyr2478Ter
XM_024447074.1:c.10661dup (VPS13B)	XP_024302842.1:p.Tyr3554Ter
NM_017890.5:c.11876dup (VPS13B) MANE Plus Clinical	NP_060360.3:p.Tyr3959Ter
NM_152564.5:c.11801dup (VPS13B) MANE Select	NP_689777.3:p.Tyr3934Ter