Canonical Allele Identifier: CA10626021

Gene: VPS13B COX6C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99876772_99876774dup , CM000670.2:g.99876772_99876774dup	GRCh38
NC_000008.10:g.100889000_100889002dup , CM000670.1:g.100889000_100889002dup	GRCh37
NC_000008.9:g.100958176_100958178dup	NCBI36
NG_007098.2:g.868507_868509dup , LRG_351:g.868507_868509dup

Transcript Alleles

HGVS	Amino-acid Change
NM_152564.5:c.*1106_*1108dup (VPS13B) MANE Select	NP_689777.3:n.*1106_*1108dup
ENST00000357162.7:c.*1106_*1108dup (VPS13B) MANE Select	ENSP00000349685.2:n.*1106_*1108dup
NM_017890.5:c.*1106_*1108dup (VPS13B) MANE Plus Clinical	NP_060360.3:n.*1106_*1108dup
ENST00000358544.7:c.*1106_*1108dup (VPS13B) MANE Plus Clinical	ENSP00000351346.2:n.*1106_*1108dup
NM_017890.4:c.*1106_*1108dup , LRG_351t1:c.*1106_*1108dup (VPS13B)	NP_060360.3:n.*1106_*1108dup
NM_152564.4:c.*1106_*1108dup , LRG_351t2:c.*1106_*1108dup (VPS13B)	NP_689777.3:n.*1106_*1108dup
ENST00000357162.6:c.*1106_*1108dup (VPS13B)	ENSP00000349685.2:n.*1106_*1108dup
ENST00000358544.6:c.*1106_*1108dup (VPS13B)	ENSP00000351346.2:n.*1106_*1108dup
ENST00000493587.1:n.2677_2679dup (VPS13B)
ENST00000520517.5:c.*141+1367_*141+1369dup (COX6C)	ENSP00000429991.1:n.*141+1367_*141+1369dup
ENST00000522934.5:c.*141+1367_*141+1369dup (COX6C)	ENSP00000428702.1:n.*141+1367_*141+1369dup
ENST00000682153.1:c.*2829_*2831dup (VPS13B)	ENSP00000507923.1:n.*2829_*2831dup
ENST00000682358.1:n.13805_13807dup (VPS13B)
ENST00000683334.1:c.*8857_*8859dup (VPS13B)	ENSP00000507369.1:n.*8857_*8859dup
XM_005250800.2:c.*1106_*1108dup (VPS13B)	XP_005250857.1:n.*1106_*1108dup
XM_005250800.3:c.*1106_*1108dup (VPS13B)	XP_005250857.1:n.*1106_*1108dup
XM_005250801.3:c.*1106_*1108dup (VPS13B)	XP_005250858.1:n.*1106_*1108dup
XM_005250801.5:c.*1106_*1108dup (VPS13B)	XP_005250858.1:n.*1106_*1108dup
XM_011516848.1:c.*1106_*1108dup (VPS13B)	XP_011515150.1:n.*1106_*1108dup
XM_011516848.2:c.*1106_*1108dup (VPS13B)	XP_011515150.1:n.*1106_*1108dup
XM_011516849.1:c.*1106_*1108dup (VPS13B)	XP_011515151.1:n.*1106_*1108dup
XM_011516849.2:c.*1106_*1108dup (VPS13B)	XP_011515151.1:n.*1106_*1108dup
XM_011516850.1:c.*1106_*1108dup (VPS13B)	XP_011515152.1:n.*1106_*1108dup
XM_011516850.2:c.*1106_*1108dup (VPS13B)	XP_011515152.1:n.*1106_*1108dup
XM_011516851.1:c.*1106_*1108dup (VPS13B)	XP_011515153.1:n.*1106_*1108dup
XM_011516851.2:c.*1106_*1108dup (VPS13B)	XP_011515153.1:n.*1106_*1108dup
XM_011516852.1:c.*1106_*1108dup (VPS13B)	XP_011515154.1:n.*1106_*1108dup
XM_011516852.2:c.*1106_*1108dup (VPS13B)	XP_011515154.1:n.*1106_*1108dup
XM_011516854.1:c.*1106_*1108dup (VPS13B)	XP_011515156.1:n.*1106_*1108dup
XM_011516854.2:c.*1106_*1108dup (VPS13B)	XP_011515156.1:n.*1106_*1108dup
XM_017013109.1:c.*1106_*1108dup (VPS13B)	XP_016868598.1:n.*1106_*1108dup
XM_017013111.1:c.*1106_*1108dup (VPS13B)	XP_016868600.1:n.*1106_*1108dup
XM_017013112.1:c.*1106_*1108dup (VPS13B)	XP_016868601.1:n.*1106_*1108dup
XM_024447074.1:c.*1106_*1108dup (VPS13B)	XP_024302842.1:n.*1106_*1108dup