Canonical Allele Identifier: CA583856862

Gene: VPS13B COX6C

Linked Data

• ClinVar Variation Id: 2188137
• ClinVar RCV Id: RCV002616304
• dbSNP Id: rs1256678355
• gnomAD v2: 8-100887627-T-TATTA
• gnomAD v3: 8-99875399-T-TATTA
• gnomAD v4: 8-99875399-T-TATTA
• MyVariant Identifiers: chr8:g.100887627_100887628insATTA (hg19) ; chr8:g.99875399_99875400insATTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875400_99875403dup , CM000670.2:g.99875400_99875403dup	GRCh38
NC_000008.10:g.100887628_100887631dup , CM000670.1:g.100887628_100887631dup	GRCh37
NC_000008.9:g.100956804_100956807dup	NCBI36
NG_007098.2:g.867135_867138dup , LRG_351:g.867135_867138dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1475-18_*1475-15dup (VPS13B)	ENSP00000507923.1:n.*1475-18_*1475-15dup
ENST00000682358.1:n.12451-18_12451-15dup (VPS13B)
ENST00000683334.1:c.*7503-18_*7503-15dup (VPS13B)	ENSP00000507369.1:n.*7503-18_*7503-15dup
ENST00000357162.7:c.11746-18_11746-15dup (VPS13B) MANE Select	ENSP00000349685.2:n.11746-18_11746-15dup
ENST00000358544.7:c.11821-18_11821-15dup (VPS13B) MANE Plus Clinical	ENSP00000351346.2:n.11821-18_11821-15dup
ENST00000357162.6:c.11746-18_11746-15dup (VPS13B)	ENSP00000349685.2:n.11746-18_11746-15dup
ENST00000358544.6:c.11821-18_11821-15dup (VPS13B)	ENSP00000351346.2:n.11821-18_11821-15dup
ENST00000493587.1:n.1323-18_1323-15dup (VPS13B)
ENST00000520517.5:c.*142-311_*142-308dup (COX6C)	ENSP00000429991.1:n.*142-311_*142-308dup
ENST00000522934.5:c.*142-2110_*142-2107dup (COX6C)	ENSP00000428702.1:n.*142-2110_*142-2107dup
NM_017890.4:c.11821-18_11821-15dup , LRG_351t1:c.11821-18_11821-15dup (VPS13B)	NP_060360.3:n.11821-18_11821-15dup
NM_152564.4:c.11746-18_11746-15dup , LRG_351t2:c.11746-18_11746-15dup (VPS13B)	NP_689777.3:n.11746-18_11746-15dup
XM_005250800.2:c.11821-18_11821-15dup (VPS13B)	XP_005250857.1:n.11821-18_11821-15dup
XM_005250801.3:c.11821-18_11821-15dup (VPS13B)	XP_005250858.1:n.11821-18_11821-15dup
XM_011516848.1:c.11818-18_11818-15dup (VPS13B)	XP_011515150.1:n.11818-18_11818-15dup
XM_011516849.1:c.11743-18_11743-15dup (VPS13B)	XP_011515151.1:n.11743-18_11743-15dup
XM_011516850.1:c.11443-18_11443-15dup (VPS13B)	XP_011515152.1:n.11443-18_11443-15dup
XM_011516851.1:c.8707-18_8707-15dup (VPS13B)	XP_011515153.1:n.8707-18_8707-15dup
XM_011516852.1:c.8707-18_8707-15dup (VPS13B)	XP_011515154.1:n.8707-18_8707-15dup
XM_011516854.1:c.7600-18_7600-15dup (VPS13B)	XP_011515156.1:n.7600-18_7600-15dup
XM_005250800.3:c.11821-18_11821-15dup (VPS13B)	XP_005250857.1:n.11821-18_11821-15dup
XM_005250801.5:c.11821-18_11821-15dup (VPS13B)	XP_005250858.1:n.11821-18_11821-15dup
XM_011516848.2:c.11818-18_11818-15dup (VPS13B)	XP_011515150.1:n.11818-18_11818-15dup
XM_011516849.2:c.11743-18_11743-15dup (VPS13B)	XP_011515151.1:n.11743-18_11743-15dup
XM_011516850.2:c.11443-18_11443-15dup (VPS13B)	XP_011515152.1:n.11443-18_11443-15dup
XM_011516851.2:c.8707-18_8707-15dup (VPS13B)	XP_011515153.1:n.8707-18_8707-15dup
XM_011516852.2:c.8707-18_8707-15dup (VPS13B)	XP_011515154.1:n.8707-18_8707-15dup
XM_011516854.2:c.7600-18_7600-15dup (VPS13B)	XP_011515156.1:n.7600-18_7600-15dup
XM_017013109.1:c.11626-18_11626-15dup (VPS13B)	XP_016868598.1:n.11626-18_11626-15dup
XM_017013111.1:c.8707-18_8707-15dup (VPS13B)	XP_016868600.1:n.8707-18_8707-15dup
XM_017013112.1:c.7378-18_7378-15dup (VPS13B)	XP_016868601.1:n.7378-18_7378-15dup
XM_024447074.1:c.10606-18_10606-15dup (VPS13B)	XP_024302842.1:n.10606-18_10606-15dup
NM_017890.5:c.11821-18_11821-15dup (VPS13B) MANE Plus Clinical	NP_060360.3:n.11821-18_11821-15dup
NM_152564.5:c.11746-18_11746-15dup (VPS13B) MANE Select	NP_689777.3:n.11746-18_11746-15dup