Canonical Allele Identifier: CA2499219507

Gene: VPS13B COX6C

Linked Data

• ClinVar Variation Id: 1222399
• ClinVar RCV Id: RCV001598029
• dbSNP Id: rs2130991117

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875699_99875700insGATT , CM000670.2:g.99875699_99875700insGATT	GRCh38
NC_000008.10:g.100887927_100887928insGATT , CM000670.1:g.100887927_100887928insGATT	GRCh37
NC_000008.9:g.100957103_100957104insGATT	NCBI36
NG_007098.2:g.867434_867435insGATT , LRG_351:g.867434_867435insGATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1756_*1757insGATT (VPS13B)	ENSP00000507923.1:n.*1756_*1757insGATT
ENST00000682358.1:n.12732_12733insGATT (VPS13B)
ENST00000683334.1:c.*7784_*7785insGATT (VPS13B)	ENSP00000507369.1:n.*7784_*7785insGATT
ENST00000357162.7:c.*33_*34insGATT (VPS13B) MANE Select	ENSP00000349685.2:n.*33_*34insGATT
ENST00000358544.7:c.*33_*34insGATT (VPS13B) MANE Plus Clinical	ENSP00000351346.2:n.*33_*34insGATT
ENST00000357162.6:c.*33_*34insGATT (VPS13B)	ENSP00000349685.2:n.*33_*34insGATT
ENST00000358544.6:c.*33_*34insGATT (VPS13B)	ENSP00000351346.2:n.*33_*34insGATT
ENST00000493587.1:n.1604_1605insGATT (VPS13B)
ENST00000520517.5:c.*142-608_*142-607insAATC (COX6C)	ENSP00000429991.1:n.*142-608_*142-607insAATC
ENST00000522934.5:c.*142-2407_*142-2406insAATC (COX6C)	ENSP00000428702.1:n.*142-2407_*142-2406insAATC
NM_017890.4:c.*33_*34insGATT , LRG_351t1:c.*33_*34insGATT (VPS13B)	NP_060360.3:n.*33_*34insGATT
NM_152564.4:c.*33_*34insGATT , LRG_351t2:c.*33_*34insGATT (VPS13B)	NP_689777.3:n.*33_*34insGATT
XM_005250800.2:c.*33_*34insGATT (VPS13B)	XP_005250857.1:n.*33_*34insGATT
XM_005250801.3:c.*33_*34insGATT (VPS13B)	XP_005250858.1:n.*33_*34insGATT
XM_011516848.1:c.*33_*34insGATT (VPS13B)	XP_011515150.1:n.*33_*34insGATT
XM_011516849.1:c.*33_*34insGATT (VPS13B)	XP_011515151.1:n.*33_*34insGATT
XM_011516850.1:c.*33_*34insGATT (VPS13B)	XP_011515152.1:n.*33_*34insGATT
XM_011516851.1:c.*33_*34insGATT (VPS13B)	XP_011515153.1:n.*33_*34insGATT
XM_011516852.1:c.*33_*34insGATT (VPS13B)	XP_011515154.1:n.*33_*34insGATT
XM_011516854.1:c.*33_*34insGATT (VPS13B)	XP_011515156.1:n.*33_*34insGATT
XM_005250800.3:c.*33_*34insGATT (VPS13B)	XP_005250857.1:n.*33_*34insGATT
XM_005250801.5:c.*33_*34insGATT (VPS13B)	XP_005250858.1:n.*33_*34insGATT
XM_011516848.2:c.*33_*34insGATT (VPS13B)	XP_011515150.1:n.*33_*34insGATT
XM_011516849.2:c.*33_*34insGATT (VPS13B)	XP_011515151.1:n.*33_*34insGATT
XM_011516850.2:c.*33_*34insGATT (VPS13B)	XP_011515152.1:n.*33_*34insGATT
XM_011516851.2:c.*33_*34insGATT (VPS13B)	XP_011515153.1:n.*33_*34insGATT
XM_011516852.2:c.*33_*34insGATT (VPS13B)	XP_011515154.1:n.*33_*34insGATT
XM_011516854.2:c.*33_*34insGATT (VPS13B)	XP_011515156.1:n.*33_*34insGATT
XM_017013109.1:c.*33_*34insGATT (VPS13B)	XP_016868598.1:n.*33_*34insGATT
XM_017013111.1:c.*33_*34insGATT (VPS13B)	XP_016868600.1:n.*33_*34insGATT
XM_017013112.1:c.*33_*34insGATT (VPS13B)	XP_016868601.1:n.*33_*34insGATT
XM_024447074.1:c.*33_*34insGATT (VPS13B)	XP_024302842.1:n.*33_*34insGATT
NM_017890.5:c.*33_*34insGATT (VPS13B) MANE Plus Clinical	NP_060360.3:n.*33_*34insGATT
NM_152564.5:c.*33_*34insGATT (VPS13B) MANE Select	NP_689777.3:n.*33_*34insGATT