Canonical Allele Identifier: CA2688072639

Gene: VPS13B COX6C

Linked Data

• gnomAD v4: 8-99875561-CACTGTTAAAACATACCATT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875564_99875582del , CM000670.2:g.99875564_99875582del	GRCh38
NC_000008.10:g.100887792_100887810del , CM000670.1:g.100887792_100887810del	GRCh37
NC_000008.9:g.100956968_100956986del	NCBI36
NG_007098.2:g.867299_867317del , LRG_351:g.867299_867317del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1621_*1639del (VPS13B)	ENSP00000507923.1:n.*1621_*1639del
ENST00000682358.1:n.12597_12615del (VPS13B)
ENST00000683334.1:c.*7649_*7667del (VPS13B)	ENSP00000507369.1:n.*7649_*7667del
ENST00000357162.7:c.11892_11910del (VPS13B) MANE Select	ENSP00000349685.2:p.Val3965TrpfsTer17
ENST00000358544.7:c.11967_11985del (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Val3990TrpfsTer17
ENST00000357162.6:c.11892_11910del (VPS13B)	ENSP00000349685.2:p.Val3965TrpfsTer17
ENST00000358544.6:c.11967_11985del (VPS13B)	ENSP00000351346.2:p.Val3990TrpfsTer17
ENST00000493587.1:n.1469_1487del (VPS13B)
ENST00000520517.5:c.*142-488_*142-470del (COX6C)	ENSP00000429991.1:n.*142-488_*142-470del
ENST00000522934.5:c.*142-2287_*142-2269del (COX6C)	ENSP00000428702.1:n.*142-2287_*142-2269del
NM_017890.4:c.11967_11985del , LRG_351t1:c.11967_11985del (VPS13B)	NP_060360.3:p.Val3990TrpfsTer17
NM_152564.4:c.11892_11910del , LRG_351t2:c.11892_11910del (VPS13B)	NP_689777.3:p.Val3965TrpfsTer17
XM_005250800.2:c.11967_11985del (VPS13B)	XP_005250857.1:p.Val3990TrpfsTer17
XM_005250801.3:c.11967_11985del (VPS13B)	XP_005250858.1:p.Val3990TrpfsTer17
XM_011516848.1:c.11964_11982del (VPS13B)	XP_011515150.1:p.Val3989TrpfsTer17
XM_011516849.1:c.11889_11907del (VPS13B)	XP_011515151.1:p.Val3964TrpfsTer17
XM_011516850.1:c.11589_11607del (VPS13B)	XP_011515152.1:p.Val3864TrpfsTer17
XM_011516851.1:c.8853_8871del (VPS13B)	XP_011515153.1:p.Val2952TrpfsTer17
XM_011516852.1:c.8853_8871del (VPS13B)	XP_011515154.1:p.Val2952TrpfsTer17
XM_011516854.1:c.7746_7764del (VPS13B)	XP_011515156.1:p.Val2583TrpfsTer17
XM_005250800.3:c.11967_11985del (VPS13B)	XP_005250857.1:p.Val3990TrpfsTer17
XM_005250801.5:c.11967_11985del (VPS13B)	XP_005250858.1:p.Val3990TrpfsTer17
XM_011516848.2:c.11964_11982del (VPS13B)	XP_011515150.1:p.Val3989TrpfsTer17
XM_011516849.2:c.11889_11907del (VPS13B)	XP_011515151.1:p.Val3964TrpfsTer17
XM_011516850.2:c.11589_11607del (VPS13B)	XP_011515152.1:p.Val3864TrpfsTer17
XM_011516851.2:c.8853_8871del (VPS13B)	XP_011515153.1:p.Val2952TrpfsTer17
XM_011516852.2:c.8853_8871del (VPS13B)	XP_011515154.1:p.Val2952TrpfsTer17
XM_011516854.2:c.7746_7764del (VPS13B)	XP_011515156.1:p.Val2583TrpfsTer17
XM_017013109.1:c.11772_11790del (VPS13B)	XP_016868598.1:p.Val3925TrpfsTer17
XM_017013111.1:c.8853_8871del (VPS13B)	XP_016868600.1:p.Val2952TrpfsTer17
XM_017013112.1:c.7524_7542del (VPS13B)	XP_016868601.1:p.Val2509TrpfsTer17
XM_024447074.1:c.10752_10770del (VPS13B)	XP_024302842.1:p.Val3585TrpfsTer17
NM_017890.5:c.11967_11985del (VPS13B) MANE Plus Clinical	NP_060360.3:p.Val3990TrpfsTer17
NM_152564.5:c.11892_11910del (VPS13B) MANE Select	NP_689777.3:p.Val3965TrpfsTer17