Canonical Allele Identifier: CA658821988

Gene: VPS13B COX6C

Linked Data

• ClinVar Variation Id: 551984
• ClinVar RCV Id: RCV000667165
• dbSNP Id: rs1554590314
• gnomAD v4: 8-99875418-G-GTAGA
• MyVariant Identifiers: chr8:g.99875420_99875423dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875420_99875423dup , CM000670.2:g.99875420_99875423dup	GRCh38
NC_000008.10:g.100887648_100887651dup , CM000670.1:g.100887648_100887651dup	GRCh37
NC_000008.9:g.100956824_100956827dup	NCBI36
NG_007098.2:g.867155_867158dup , LRG_351:g.867155_867158dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*1477_*1480dup (VPS13B)	ENSP00000507923.1:n.*1477_*1480dup
ENST00000682358.1:n.12453_12456dup (VPS13B)
ENST00000683334.1:c.*7505_*7508dup (VPS13B)	ENSP00000507369.1:n.*7505_*7508dup
ENST00000357162.7:c.11748_11751dup (VPS13B) MANE Select	ENSP00000349685.2:p.Gly3918ArgfsTer?
ENST00000358544.7:c.11823_11826dup (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Gly3943ArgfsTer?
ENST00000357162.6:c.11748_11751dup (VPS13B)	ENSP00000349685.2:p.Gly3918ArgfsTer?
ENST00000358544.6:c.11823_11826dup (VPS13B)	ENSP00000351346.2:p.Gly3943ArgfsTer?
ENST00000493587.1:n.1325_1328dup (VPS13B)
ENST00000520517.5:c.*142-330_*142-327dup (COX6C)	ENSP00000429991.1:n.*142-330_*142-327dup
ENST00000522934.5:c.*142-2129_*142-2126dup (COX6C)	ENSP00000428702.1:n.*142-2129_*142-2126du...
NM_017890.4:c.11823_11826dup , LRG_351t1:c.11823_11826dup (VPS13B)	NP_060360.3:p.Gly3943ArgfsTer?
NM_152564.4:c.11748_11751dup , LRG_351t2:c.11748_11751dup (VPS13B)	NP_689777.3:p.Gly3918ArgfsTer?
XM_005250800.2:c.11823_11826dup (VPS13B)	XP_005250857.1:p.Gly3943ArgfsTer?
XM_005250801.3:c.11823_11826dup (VPS13B)	XP_005250858.1:p.Gly3943ArgfsTer?
XM_011516848.1:c.11820_11823dup (VPS13B)	XP_011515150.1:p.Gly3942ArgfsTer?
XM_011516849.1:c.11745_11748dup (VPS13B)	XP_011515151.1:p.Gly3917ArgfsTer?
XM_011516850.1:c.11445_11448dup (VPS13B)	XP_011515152.1:p.Gly3817ArgfsTer?
XM_011516851.1:c.8709_8712dup (VPS13B)	XP_011515153.1:p.Gly2905ArgfsTer?
XM_011516852.1:c.8709_8712dup (VPS13B)	XP_011515154.1:p.Gly2905ArgfsTer?
XM_011516854.1:c.7602_7605dup (VPS13B)	XP_011515156.1:p.Gly2536ArgfsTer?
XM_005250800.3:c.11823_11826dup (VPS13B)	XP_005250857.1:p.Gly3943ArgfsTer?
XM_005250801.5:c.11823_11826dup (VPS13B)	XP_005250858.1:p.Gly3943ArgfsTer?
XM_011516848.2:c.11820_11823dup (VPS13B)	XP_011515150.1:p.Gly3942ArgfsTer?
XM_011516849.2:c.11745_11748dup (VPS13B)	XP_011515151.1:p.Gly3917ArgfsTer?
XM_011516850.2:c.11445_11448dup (VPS13B)	XP_011515152.1:p.Gly3817ArgfsTer?
XM_011516851.2:c.8709_8712dup (VPS13B)	XP_011515153.1:p.Gly2905ArgfsTer?
XM_011516852.2:c.8709_8712dup (VPS13B)	XP_011515154.1:p.Gly2905ArgfsTer?
XM_011516854.2:c.7602_7605dup (VPS13B)	XP_011515156.1:p.Gly2536ArgfsTer?
XM_017013109.1:c.11628_11631dup (VPS13B)	XP_016868598.1:p.Gly3878ArgfsTer?
XM_017013111.1:c.8709_8712dup (VPS13B)	XP_016868600.1:p.Gly2905ArgfsTer?
XM_017013112.1:c.7380_7383dup (VPS13B)	XP_016868601.1:p.Gly2462ArgfsTer?
XM_024447074.1:c.10608_10611dup (VPS13B)	XP_024302842.1:p.Gly3538ArgfsTer?
NM_017890.5:c.11823_11826dup (VPS13B) MANE Plus Clinical	NP_060360.3:p.Gly3943ArgfsTer?
NM_152564.5:c.11748_11751dup (VPS13B) MANE Select	NP_689777.3:p.Gly3918ArgfsTer?