Canonical Allele Identifier: CA4825331

Gene: VPS13B COX6C

Linked Data

• dbSNP Id: rs751184801
• ExAC: 8:100887622 A / ATCTT
• gnomAD v2: 8-100887622-A-ATCTT
• gnomAD v3: 8-99875394-A-ATCTT
• gnomAD v4: 8-99875394-A-ATCTT
• MyVariant Identifiers: chr8:g.100887622_100887623insTCTT (hg19) ; chr8:g.99875394_99875395insTCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875396_99875399dup , CM000670.2:g.99875396_99875399dup	GRCh38
NC_000008.10:g.100887624_100887627dup , CM000670.1:g.100887624_100887627dup	GRCh37
NC_000008.9:g.100956800_100956803dup	NCBI36
NG_007098.2:g.867131_867134dup , LRG_351:g.867131_867134dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*1475-22_*1475-19dup (VPS13B)	ENSP00000507923.1:n.*1475-22_*1475-19dup
ENST00000682358.1:n.12451-22_12451-19dup (VPS13B)
ENST00000683334.1:c.*7503-22_*7503-19dup (VPS13B)	ENSP00000507369.1:n.*7503-22_*7503-19dup
ENST00000357162.7:c.11746-22_11746-19dup (VPS13B) MANE Select	ENSP00000349685.2:n.11746-22_11746-19dup
ENST00000358544.7:c.11821-22_11821-19dup (VPS13B) MANE Plus Clinical	ENSP00000351346.2:n.11821-22_11821-19dup
ENST00000357162.6:c.11746-22_11746-19dup (VPS13B)	ENSP00000349685.2:n.11746-22_11746-19dup
ENST00000358544.6:c.11821-22_11821-19dup (VPS13B)	ENSP00000351346.2:n.11821-22_11821-19dup
ENST00000493587.1:n.1323-22_1323-19dup (VPS13B)
ENST00000520517.5:c.*142-306_*142-303dup (COX6C)	ENSP00000429991.1:n.*142-306_*142-303dup
ENST00000522934.5:c.*142-2105_*142-2102dup (COX6C)	ENSP00000428702.1:n.*142-2105_*142-2102dup
NM_017890.4:c.11821-22_11821-19dup , LRG_351t1:c.11821-22_11821-19dup (VPS13B)	NP_060360.3:n.11821-22_11821-19dup
NM_152564.4:c.11746-22_11746-19dup , LRG_351t2:c.11746-22_11746-19dup (VPS13B)	NP_689777.3:n.11746-22_11746-19dup
XM_005250800.2:c.11821-22_11821-19dup (VPS13B)	XP_005250857.1:n.11821-22_11821-19dup
XM_005250801.3:c.11821-22_11821-19dup (VPS13B)	XP_005250858.1:n.11821-22_11821-19dup
XM_011516848.1:c.11818-22_11818-19dup (VPS13B)	XP_011515150.1:n.11818-22_11818-19dup
XM_011516849.1:c.11743-22_11743-19dup (VPS13B)	XP_011515151.1:n.11743-22_11743-19dup
XM_011516850.1:c.11443-22_11443-19dup (VPS13B)	XP_011515152.1:n.11443-22_11443-19dup
XM_011516851.1:c.8707-22_8707-19dup (VPS13B)	XP_011515153.1:n.8707-22_8707-19dup
XM_011516852.1:c.8707-22_8707-19dup (VPS13B)	XP_011515154.1:n.8707-22_8707-19dup
XM_011516854.1:c.7600-22_7600-19dup (VPS13B)	XP_011515156.1:n.7600-22_7600-19dup
XM_005250800.3:c.11821-22_11821-19dup (VPS13B)	XP_005250857.1:n.11821-22_11821-19dup
XM_005250801.5:c.11821-22_11821-19dup (VPS13B)	XP_005250858.1:n.11821-22_11821-19dup
XM_011516848.2:c.11818-22_11818-19dup (VPS13B)	XP_011515150.1:n.11818-22_11818-19dup
XM_011516849.2:c.11743-22_11743-19dup (VPS13B)	XP_011515151.1:n.11743-22_11743-19dup
XM_011516850.2:c.11443-22_11443-19dup (VPS13B)	XP_011515152.1:n.11443-22_11443-19dup
XM_011516851.2:c.8707-22_8707-19dup (VPS13B)	XP_011515153.1:n.8707-22_8707-19dup
XM_011516852.2:c.8707-22_8707-19dup (VPS13B)	XP_011515154.1:n.8707-22_8707-19dup
XM_011516854.2:c.7600-22_7600-19dup (VPS13B)	XP_011515156.1:n.7600-22_7600-19dup
XM_017013109.1:c.11626-22_11626-19dup (VPS13B)	XP_016868598.1:n.11626-22_11626-19dup
XM_017013111.1:c.8707-22_8707-19dup (VPS13B)	XP_016868600.1:n.8707-22_8707-19dup
XM_017013112.1:c.7378-22_7378-19dup (VPS13B)	XP_016868601.1:n.7378-22_7378-19dup
XM_024447074.1:c.10606-22_10606-19dup (VPS13B)	XP_024302842.1:n.10606-22_10606-19dup
NM_017890.5:c.11821-22_11821-19dup (VPS13B) MANE Plus Clinical	NP_060360.3:n.11821-22_11821-19dup
NM_152564.5:c.11746-22_11746-19dup (VPS13B) MANE Select	NP_689777.3:n.11746-22_11746-19dup