Canonical Allele Identifier: CA2781481849

Gene: VPS13B COX6C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875714_99875721del , CM000670.2:g.99875714_99875721del	GRCh38
NC_000008.10:g.100887942_100887949del , CM000670.1:g.100887942_100887949del	GRCh37
NC_000008.9:g.100957118_100957125del	NCBI36
NG_007098.2:g.867449_867456del , LRG_351:g.867449_867456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1771_*1778del (VPS13B)	ENSP00000507923.1:n.*1771_*1778del
ENST00000682358.1:n.12747_12754del (VPS13B)
ENST00000683334.1:c.*7799_*7806del (VPS13B)	ENSP00000507369.1:n.*7799_*7806del
ENST00000357162.7:c.*48_*55del (VPS13B) MANE Select	ENSP00000349685.2:n.*48_*55del
ENST00000358544.7:c.*48_*55del (VPS13B) MANE Plus Clinical	ENSP00000351346.2:n.*48_*55del
ENST00000357162.6:c.*48_*55del (VPS13B)	ENSP00000349685.2:n.*48_*55del
ENST00000358544.6:c.*48_*55del (VPS13B)	ENSP00000351346.2:n.*48_*55del
ENST00000493587.1:n.1619_1626del (VPS13B)
ENST00000520517.5:c.*142-628_*142-621del (COX6C)	ENSP00000429991.1:n.*142-628_*142-621del
ENST00000522934.5:c.*141+2420_*142-2420del (COX6C)	ENSP00000428702.1:n.*141+2420_*142-2420del
NM_017890.4:c.*48_*55del , LRG_351t1:c.*48_*55del (VPS13B)	NP_060360.3:n.*48_*55del
NM_152564.4:c.*48_*55del , LRG_351t2:c.*48_*55del (VPS13B)	NP_689777.3:n.*48_*55del
XM_005250800.2:c.*48_*55del (VPS13B)	XP_005250857.1:n.*48_*55del
XM_005250801.3:c.*48_*55del (VPS13B)	XP_005250858.1:n.*48_*55del
XM_011516848.1:c.*48_*55del (VPS13B)	XP_011515150.1:n.*48_*55del
XM_011516849.1:c.*48_*55del (VPS13B)	XP_011515151.1:n.*48_*55del
XM_011516850.1:c.*48_*55del (VPS13B)	XP_011515152.1:n.*48_*55del
XM_011516851.1:c.*48_*55del (VPS13B)	XP_011515153.1:n.*48_*55del
XM_011516852.1:c.*48_*55del (VPS13B)	XP_011515154.1:n.*48_*55del
XM_011516854.1:c.*48_*55del (VPS13B)	XP_011515156.1:n.*48_*55del
XM_005250800.3:c.*48_*55del (VPS13B)	XP_005250857.1:n.*48_*55del
XM_005250801.5:c.*48_*55del (VPS13B)	XP_005250858.1:n.*48_*55del
XM_011516848.2:c.*48_*55del (VPS13B)	XP_011515150.1:n.*48_*55del
XM_011516849.2:c.*48_*55del (VPS13B)	XP_011515151.1:n.*48_*55del
XM_011516850.2:c.*48_*55del (VPS13B)	XP_011515152.1:n.*48_*55del
XM_011516851.2:c.*48_*55del (VPS13B)	XP_011515153.1:n.*48_*55del
XM_011516852.2:c.*48_*55del (VPS13B)	XP_011515154.1:n.*48_*55del
XM_011516854.2:c.*48_*55del (VPS13B)	XP_011515156.1:n.*48_*55del
XM_017013109.1:c.*48_*55del (VPS13B)	XP_016868598.1:n.*48_*55del
XM_017013111.1:c.*48_*55del (VPS13B)	XP_016868600.1:n.*48_*55del
XM_017013112.1:c.*48_*55del (VPS13B)	XP_016868601.1:n.*48_*55del
XM_024447074.1:c.*48_*55del (VPS13B)	XP_024302842.1:n.*48_*55del
NM_017890.5:c.*48_*55del (VPS13B) MANE Plus Clinical	NP_060360.3:n.*48_*55del
NM_152564.5:c.*48_*55del (VPS13B) MANE Select	NP_689777.3:n.*48_*55del