Canonical Allele Identifier: CA4825324

Gene: VPS13B COX6C

Linked Data

• dbSNP Id: rs763518619
• ExAC: 8:100887601 CTCG / C
• gnomAD v2: 8-100887601-CTCG-C
• gnomAD v3: 8-99875373-CTCG-C
• gnomAD v4: 8-99875373-CTCG-C
• MyVariant Identifiers: chr8:g.100887602_100887604del (hg19) ; chr8:g.99875375_99875377del (hg38) ; chr8:g.99875374_99875376del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875375_99875377del , CM000670.2:g.99875375_99875377del	GRCh38
NC_000008.10:g.100887603_100887605del , CM000670.1:g.100887603_100887605del	GRCh37
NC_000008.9:g.100956779_100956781del	NCBI36
NG_007098.2:g.867110_867112del , LRG_351:g.867110_867112del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1475-43_*1475-41del (VPS13B)	ENSP00000507923.1:n.*1475-43_*1475-41del
ENST00000682358.1:n.12451-43_12451-41del (VPS13B)
ENST00000683334.1:c.*7503-43_*7503-41del (VPS13B)	ENSP00000507369.1:n.*7503-43_*7503-41del
ENST00000357162.7:c.11746-43_11746-41del (VPS13B) MANE Select	ENSP00000349685.2:n.11746-43_11746-41del
ENST00000358544.7:c.11821-43_11821-41del (VPS13B) MANE Plus Clinical	ENSP00000351346.2:n.11821-43_11821-41del
ENST00000357162.6:c.11746-43_11746-41del (VPS13B)	ENSP00000349685.2:n.11746-43_11746-41del
ENST00000358544.6:c.11821-43_11821-41del (VPS13B)	ENSP00000351346.2:n.11821-43_11821-41del
ENST00000493587.1:n.1323-43_1323-41del (VPS13B)
ENST00000520517.5:c.*142-284_*142-282del (COX6C)	ENSP00000429991.1:n.*142-284_*142-282del
ENST00000522934.5:c.*142-2083_*142-2081del (COX6C)	ENSP00000428702.1:n.*142-2083_*142-2081del
NM_017890.4:c.11821-43_11821-41del , LRG_351t1:c.11821-43_11821-41del (VPS13B)	NP_060360.3:n.11821-43_11821-41del
NM_152564.4:c.11746-43_11746-41del , LRG_351t2:c.11746-43_11746-41del (VPS13B)	NP_689777.3:n.11746-43_11746-41del
XM_005250800.2:c.11821-43_11821-41del (VPS13B)	XP_005250857.1:n.11821-43_11821-41del
XM_005250801.3:c.11821-43_11821-41del (VPS13B)	XP_005250858.1:n.11821-43_11821-41del
XM_011516848.1:c.11818-43_11818-41del (VPS13B)	XP_011515150.1:n.11818-43_11818-41del
XM_011516849.1:c.11743-43_11743-41del (VPS13B)	XP_011515151.1:n.11743-43_11743-41del
XM_011516850.1:c.11443-43_11443-41del (VPS13B)	XP_011515152.1:n.11443-43_11443-41del
XM_011516851.1:c.8707-43_8707-41del (VPS13B)	XP_011515153.1:n.8707-43_8707-41del
XM_011516852.1:c.8707-43_8707-41del (VPS13B)	XP_011515154.1:n.8707-43_8707-41del
XM_011516854.1:c.7600-43_7600-41del (VPS13B)	XP_011515156.1:n.7600-43_7600-41del
XM_005250800.3:c.11821-43_11821-41del (VPS13B)	XP_005250857.1:n.11821-43_11821-41del
XM_005250801.5:c.11821-43_11821-41del (VPS13B)	XP_005250858.1:n.11821-43_11821-41del
XM_011516848.2:c.11818-43_11818-41del (VPS13B)	XP_011515150.1:n.11818-43_11818-41del
XM_011516849.2:c.11743-43_11743-41del (VPS13B)	XP_011515151.1:n.11743-43_11743-41del
XM_011516850.2:c.11443-43_11443-41del (VPS13B)	XP_011515152.1:n.11443-43_11443-41del
XM_011516851.2:c.8707-43_8707-41del (VPS13B)	XP_011515153.1:n.8707-43_8707-41del
XM_011516852.2:c.8707-43_8707-41del (VPS13B)	XP_011515154.1:n.8707-43_8707-41del
XM_011516854.2:c.7600-43_7600-41del (VPS13B)	XP_011515156.1:n.7600-43_7600-41del
XM_017013109.1:c.11626-43_11626-41del (VPS13B)	XP_016868598.1:n.11626-43_11626-41del
XM_017013111.1:c.8707-43_8707-41del (VPS13B)	XP_016868600.1:n.8707-43_8707-41del
XM_017013112.1:c.7378-43_7378-41del (VPS13B)	XP_016868601.1:n.7378-43_7378-41del
XM_024447074.1:c.10606-43_10606-41del (VPS13B)	XP_024302842.1:n.10606-43_10606-41del
NM_017890.5:c.11821-43_11821-41del (VPS13B) MANE Plus Clinical	NP_060360.3:n.11821-43_11821-41del
NM_152564.5:c.11746-43_11746-41del (VPS13B) MANE Select	NP_689777.3:n.11746-43_11746-41del