Canonical Allele Identifier: CA2602581870

Gene: VPS13B COX6C

Linked Data

• gnomAD v3: 8-99875696-T-TGTGA
• gnomAD v4: 8-99875696-T-TGTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875697_99875700dup , CM000670.2:g.99875697_99875700dup	GRCh38
NC_000008.10:g.100887925_100887928dup , CM000670.1:g.100887925_100887928dup	GRCh37
NC_000008.9:g.100957101_100957104dup	NCBI36
NG_007098.2:g.867432_867435dup , LRG_351:g.867432_867435dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1754_*1757dup (VPS13B)	ENSP00000507923.1:n.*1754_*1757dup
ENST00000682358.1:n.12730_12733dup (VPS13B)
ENST00000683334.1:c.*7782_*7785dup (VPS13B)	ENSP00000507369.1:n.*7782_*7785dup
ENST00000357162.7:c.*31_*34dup (VPS13B) MANE Select	ENSP00000349685.2:n.*31_*34dup
ENST00000358544.7:c.*31_*34dup (VPS13B) MANE Plus Clinical	ENSP00000351346.2:n.*31_*34dup
ENST00000357162.6:c.*31_*34dup (VPS13B)	ENSP00000349685.2:n.*31_*34dup
ENST00000358544.6:c.*31_*34dup (VPS13B)	ENSP00000351346.2:n.*31_*34dup
ENST00000493587.1:n.1602_1605dup (VPS13B)
ENST00000520517.5:c.*142-608_*142-605dup (COX6C)	ENSP00000429991.1:n.*142-608_*142-605dup
ENST00000522934.5:c.*142-2407_*142-2404dup (COX6C)	ENSP00000428702.1:n.*142-2407_*142-2404dup
NM_017890.4:c.*31_*34dup , LRG_351t1:c.*31_*34dup (VPS13B)	NP_060360.3:n.*31_*34dup
NM_152564.4:c.*31_*34dup , LRG_351t2:c.*31_*34dup (VPS13B)	NP_689777.3:n.*31_*34dup
XM_005250800.2:c.*31_*34dup (VPS13B)	XP_005250857.1:n.*31_*34dup
XM_005250801.3:c.*31_*34dup (VPS13B)	XP_005250858.1:n.*31_*34dup
XM_011516848.1:c.*31_*34dup (VPS13B)	XP_011515150.1:n.*31_*34dup
XM_011516849.1:c.*31_*34dup (VPS13B)	XP_011515151.1:n.*31_*34dup
XM_011516850.1:c.*31_*34dup (VPS13B)	XP_011515152.1:n.*31_*34dup
XM_011516851.1:c.*31_*34dup (VPS13B)	XP_011515153.1:n.*31_*34dup
XM_011516852.1:c.*31_*34dup (VPS13B)	XP_011515154.1:n.*31_*34dup
XM_011516854.1:c.*31_*34dup (VPS13B)	XP_011515156.1:n.*31_*34dup
XM_005250800.3:c.*31_*34dup (VPS13B)	XP_005250857.1:n.*31_*34dup
XM_005250801.5:c.*31_*34dup (VPS13B)	XP_005250858.1:n.*31_*34dup
XM_011516848.2:c.*31_*34dup (VPS13B)	XP_011515150.1:n.*31_*34dup
XM_011516849.2:c.*31_*34dup (VPS13B)	XP_011515151.1:n.*31_*34dup
XM_011516850.2:c.*31_*34dup (VPS13B)	XP_011515152.1:n.*31_*34dup
XM_011516851.2:c.*31_*34dup (VPS13B)	XP_011515153.1:n.*31_*34dup
XM_011516852.2:c.*31_*34dup (VPS13B)	XP_011515154.1:n.*31_*34dup
XM_011516854.2:c.*31_*34dup (VPS13B)	XP_011515156.1:n.*31_*34dup
XM_017013109.1:c.*31_*34dup (VPS13B)	XP_016868598.1:n.*31_*34dup
XM_017013111.1:c.*31_*34dup (VPS13B)	XP_016868600.1:n.*31_*34dup
XM_017013112.1:c.*31_*34dup (VPS13B)	XP_016868601.1:n.*31_*34dup
XM_024447074.1:c.*31_*34dup (VPS13B)	XP_024302842.1:n.*31_*34dup
NM_017890.5:c.*31_*34dup (VPS13B) MANE Plus Clinical	NP_060360.3:n.*31_*34dup
NM_152564.5:c.*31_*34dup (VPS13B) MANE Select	NP_689777.3:n.*31_*34dup