Canonical Allele Identifier: CA223354

Gene: VPS13B COX6C

Linked Data

• ClinVar Variation Id: 56642
• ClinVar RCV Id: RCV002313737 ; RCV003982870
• dbSNP Id: rs386834068
• ExAC: 8:100887648 A / AGAT
• gnomAD v2: 8-100887648-A-AGAT
• gnomAD v3: 8-99875420-A-AGAT
• gnomAD v4: 8-99875420-A-AGAT
• MyVariant Identifiers: chr8:g.100887650_100887652dup (hg19) ; chr8:g.100887650_100887652dupATG (hg19) ; chr8:g.100887648_100887649insGAT (hg19) ; chr8:g.99875422_99875424dupATG (hg38) ; chr8:g.99875420_99875421insGAT (hg38)
• PubMed: PMID:20921020 ; PMID:23757202

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875422_99875424dup , CM000670.2:g.99875422_99875424dup	GRCh38
NC_000008.10:g.100887650_100887652dup , CM000670.1:g.100887650_100887652dup	GRCh37
NC_000008.9:g.100956826_100956828dup	NCBI36
NG_007098.2:g.867157_867159dup , LRG_351:g.867157_867159dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*1479_*1481dup (VPS13B)	ENSP00000507923.1:n.*1479_*1481dup
ENST00000682358.1:n.12455_12457dup (VPS13B)
ENST00000683334.1:c.*7507_*7509dup (VPS13B)	ENSP00000507369.1:n.*7507_*7509dup
ENST00000357162.7:c.11750_11752dup (VPS13B) MANE Select	ENSP00000349685.2:p.Asp3917_Gly3918insAsp...
ENST00000358544.7:c.11825_11827dup (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Asp3942_Gly3943insAsp...
ENST00000357162.6:c.11750_11752dup (VPS13B)	ENSP00000349685.2:p.Asp3917_Gly3918insAsp...
ENST00000358544.6:c.11825_11827dup (VPS13B)	ENSP00000351346.2:p.Asp3942_Gly3943insAsp...
ENST00000493587.1:n.1327_1329dup (VPS13B)
ENST00000520517.5:c.*142-331_*142-329dup (COX6C)	ENSP00000429991.1:n.*142-331_*142-329dup
ENST00000522934.5:c.*142-2130_*142-2128dup (COX6C)	ENSP00000428702.1:n.*142-2130_*142-2128du...
NM_017890.4:c.11825_11827dup , LRG_351t1:c.11825_11827dup (VPS13B)	NP_060360.3:p.Asp3942_Gly3943insAsp
NM_152564.4:c.11750_11752dup , LRG_351t2:c.11750_11752dup (VPS13B)	NP_689777.3:p.Asp3917_Gly3918insAsp
XM_005250800.2:c.11825_11827dup (VPS13B)	XP_005250857.1:p.Asp3942_Gly3943insAsp
XM_005250801.3:c.11825_11827dup (VPS13B)	XP_005250858.1:p.Asp3942_Gly3943insAsp
XM_011516848.1:c.11822_11824dup (VPS13B)	XP_011515150.1:p.Asp3941_Gly3942insAsp
XM_011516849.1:c.11747_11749dup (VPS13B)	XP_011515151.1:p.Asp3916_Gly3917insAsp
XM_011516850.1:c.11447_11449dup (VPS13B)	XP_011515152.1:p.Asp3816_Gly3817insAsp
XM_011516851.1:c.8711_8713dup (VPS13B)	XP_011515153.1:p.Asp2904_Gly2905insAsp
XM_011516852.1:c.8711_8713dup (VPS13B)	XP_011515154.1:p.Asp2904_Gly2905insAsp
XM_011516854.1:c.7604_7606dup (VPS13B)	XP_011515156.1:p.Asp2535_Gly2536insAsp
XM_005250800.3:c.11825_11827dup (VPS13B)	XP_005250857.1:p.Asp3942_Gly3943insAsp
XM_005250801.5:c.11825_11827dup (VPS13B)	XP_005250858.1:p.Asp3942_Gly3943insAsp
XM_011516848.2:c.11822_11824dup (VPS13B)	XP_011515150.1:p.Asp3941_Gly3942insAsp
XM_011516849.2:c.11747_11749dup (VPS13B)	XP_011515151.1:p.Asp3916_Gly3917insAsp
XM_011516850.2:c.11447_11449dup (VPS13B)	XP_011515152.1:p.Asp3816_Gly3817insAsp
XM_011516851.2:c.8711_8713dup (VPS13B)	XP_011515153.1:p.Asp2904_Gly2905insAsp
XM_011516852.2:c.8711_8713dup (VPS13B)	XP_011515154.1:p.Asp2904_Gly2905insAsp
XM_011516854.2:c.7604_7606dup (VPS13B)	XP_011515156.1:p.Asp2535_Gly2536insAsp
XM_017013109.1:c.11630_11632dup (VPS13B)	XP_016868598.1:p.Asp3877_Gly3878insAsp
XM_017013111.1:c.8711_8713dup (VPS13B)	XP_016868600.1:p.Asp2904_Gly2905insAsp
XM_017013112.1:c.7382_7384dup (VPS13B)	XP_016868601.1:p.Asp2461_Gly2462insAsp
XM_024447074.1:c.10610_10612dup (VPS13B)	XP_024302842.1:p.Asp3537_Gly3538insAsp
NM_017890.5:c.11825_11827dup (VPS13B) MANE Plus Clinical	NP_060360.3:p.Asp3942_Gly3943insAsp
NM_152564.5:c.11750_11752dup (VPS13B) MANE Select	NP_689777.3:p.Asp3917_Gly3918insAsp