Canonical Allele Identifier: CA2739268951

Gene: VPS13B COX6C

Linked Data

• ClinVar Variation Id: 2868710
• ClinVar RCV Id: RCV003605543

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875487_99875494del , CM000670.2:g.99875487_99875494del	GRCh38
NC_000008.10:g.100887715_100887722del , CM000670.1:g.100887715_100887722del	GRCh37
NC_000008.9:g.100956891_100956898del	NCBI36
NG_007098.2:g.867222_867229del , LRG_351:g.867222_867229del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1544_*1551del (VPS13B)	ENSP00000507923.1:n.*1544_*1551del
ENST00000682358.1:n.12520_12527del (VPS13B)
ENST00000683334.1:c.*7572_*7579del (VPS13B)	ENSP00000507369.1:n.*7572_*7579del
ENST00000357162.7:c.11815_11822del (VPS13B) MANE Select	ENSP00000349685.2:p.Ser3939ProfsTer25
ENST00000358544.7:c.11890_11897del (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Ser3964ProfsTer25
ENST00000357162.6:c.11815_11822del (VPS13B)	ENSP00000349685.2:p.Ser3939ProfsTer25
ENST00000358544.6:c.11890_11897del (VPS13B)	ENSP00000351346.2:p.Ser3964ProfsTer25
ENST00000493587.1:n.1392_1399del (VPS13B)
ENST00000520517.5:c.*142-400_*142-393del (COX6C)	ENSP00000429991.1:n.*142-400_*142-393del
ENST00000522934.5:c.*142-2199_*142-2192del (COX6C)	ENSP00000428702.1:n.*142-2199_*142-2192del
NM_017890.4:c.11890_11897del , LRG_351t1:c.11890_11897del (VPS13B)	NP_060360.3:p.Ser3964ProfsTer25
NM_152564.4:c.11815_11822del , LRG_351t2:c.11815_11822del (VPS13B)	NP_689777.3:p.Ser3939ProfsTer25
XM_005250800.2:c.11890_11897del (VPS13B)	XP_005250857.1:p.Ser3964ProfsTer25
XM_005250801.3:c.11890_11897del (VPS13B)	XP_005250858.1:p.Ser3964ProfsTer25
XM_011516848.1:c.11887_11894del (VPS13B)	XP_011515150.1:p.Ser3963ProfsTer25
XM_011516849.1:c.11812_11819del (VPS13B)	XP_011515151.1:p.Ser3938ProfsTer25
XM_011516850.1:c.11512_11519del (VPS13B)	XP_011515152.1:p.Ser3838ProfsTer25
XM_011516851.1:c.8776_8783del (VPS13B)	XP_011515153.1:p.Ser2926ProfsTer25
XM_011516852.1:c.8776_8783del (VPS13B)	XP_011515154.1:p.Ser2926ProfsTer25
XM_011516854.1:c.7669_7676del (VPS13B)	XP_011515156.1:p.Ser2557ProfsTer25
XM_005250800.3:c.11890_11897del (VPS13B)	XP_005250857.1:p.Ser3964ProfsTer25
XM_005250801.5:c.11890_11897del (VPS13B)	XP_005250858.1:p.Ser3964ProfsTer25
XM_011516848.2:c.11887_11894del (VPS13B)	XP_011515150.1:p.Ser3963ProfsTer25
XM_011516849.2:c.11812_11819del (VPS13B)	XP_011515151.1:p.Ser3938ProfsTer25
XM_011516850.2:c.11512_11519del (VPS13B)	XP_011515152.1:p.Ser3838ProfsTer25
XM_011516851.2:c.8776_8783del (VPS13B)	XP_011515153.1:p.Ser2926ProfsTer25
XM_011516852.2:c.8776_8783del (VPS13B)	XP_011515154.1:p.Ser2926ProfsTer25
XM_011516854.2:c.7669_7676del (VPS13B)	XP_011515156.1:p.Ser2557ProfsTer25
XM_017013109.1:c.11695_11702del (VPS13B)	XP_016868598.1:p.Ser3899ProfsTer25
XM_017013111.1:c.8776_8783del (VPS13B)	XP_016868600.1:p.Ser2926ProfsTer25
XM_017013112.1:c.7447_7454del (VPS13B)	XP_016868601.1:p.Ser2483ProfsTer25
XM_024447074.1:c.10675_10682del (VPS13B)	XP_024302842.1:p.Ser3559ProfsTer25
NM_017890.5:c.11890_11897del (VPS13B) MANE Plus Clinical	NP_060360.3:p.Ser3964ProfsTer25
NM_152564.5:c.11815_11822del (VPS13B) MANE Select	NP_689777.3:p.Ser3939ProfsTer25