Canonical Allele Identifier: CA2688072776

Gene: VPS13B COX6C

Linked Data

• gnomAD v4: 8-99875720-T-TGAGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875721_99875725dup , CM000670.2:g.99875721_99875725dup	GRCh38
NC_000008.10:g.100887949_100887953dup , CM000670.1:g.100887949_100887953dup	GRCh37
NC_000008.9:g.100957125_100957129dup	NCBI36
NG_007098.2:g.867456_867460dup , LRG_351:g.867456_867460dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1778_*1782dup (VPS13B)	ENSP00000507923.1:n.*1778_*1782dup
ENST00000682358.1:n.12754_12758dup (VPS13B)
ENST00000683334.1:c.*7806_*7810dup (VPS13B)	ENSP00000507369.1:n.*7806_*7810dup
ENST00000357162.7:c.*55_*59dup (VPS13B) MANE Select	ENSP00000349685.2:n.*55_*59dup
ENST00000358544.7:c.*55_*59dup (VPS13B) MANE Plus Clinical	ENSP00000351346.2:n.*55_*59dup
ENST00000357162.6:c.*55_*59dup (VPS13B)	ENSP00000349685.2:n.*55_*59dup
ENST00000358544.6:c.*55_*59dup (VPS13B)	ENSP00000351346.2:n.*55_*59dup
ENST00000493587.1:n.1626_1630dup (VPS13B)
ENST00000520517.5:c.*142-633_*142-629dup (COX6C)	ENSP00000429991.1:n.*142-633_*142-629dup
ENST00000522934.5:c.*141+2415_*141+2419dup (COX6C)	ENSP00000428702.1:n.*141+2415_*141+2419dup
NM_017890.4:c.*55_*59dup , LRG_351t1:c.*55_*59dup (VPS13B)	NP_060360.3:n.*55_*59dup
NM_152564.4:c.*55_*59dup , LRG_351t2:c.*55_*59dup (VPS13B)	NP_689777.3:n.*55_*59dup
XM_005250800.2:c.*55_*59dup (VPS13B)	XP_005250857.1:n.*55_*59dup
XM_005250801.3:c.*55_*59dup (VPS13B)	XP_005250858.1:n.*55_*59dup
XM_011516848.1:c.*55_*59dup (VPS13B)	XP_011515150.1:n.*55_*59dup
XM_011516849.1:c.*55_*59dup (VPS13B)	XP_011515151.1:n.*55_*59dup
XM_011516850.1:c.*55_*59dup (VPS13B)	XP_011515152.1:n.*55_*59dup
XM_011516851.1:c.*55_*59dup (VPS13B)	XP_011515153.1:n.*55_*59dup
XM_011516852.1:c.*55_*59dup (VPS13B)	XP_011515154.1:n.*55_*59dup
XM_011516854.1:c.*55_*59dup (VPS13B)	XP_011515156.1:n.*55_*59dup
XM_005250800.3:c.*55_*59dup (VPS13B)	XP_005250857.1:n.*55_*59dup
XM_005250801.5:c.*55_*59dup (VPS13B)	XP_005250858.1:n.*55_*59dup
XM_011516848.2:c.*55_*59dup (VPS13B)	XP_011515150.1:n.*55_*59dup
XM_011516849.2:c.*55_*59dup (VPS13B)	XP_011515151.1:n.*55_*59dup
XM_011516850.2:c.*55_*59dup (VPS13B)	XP_011515152.1:n.*55_*59dup
XM_011516851.2:c.*55_*59dup (VPS13B)	XP_011515153.1:n.*55_*59dup
XM_011516852.2:c.*55_*59dup (VPS13B)	XP_011515154.1:n.*55_*59dup
XM_011516854.2:c.*55_*59dup (VPS13B)	XP_011515156.1:n.*55_*59dup
XM_017013109.1:c.*55_*59dup (VPS13B)	XP_016868598.1:n.*55_*59dup
XM_017013111.1:c.*55_*59dup (VPS13B)	XP_016868600.1:n.*55_*59dup
XM_017013112.1:c.*55_*59dup (VPS13B)	XP_016868601.1:n.*55_*59dup
XM_024447074.1:c.*55_*59dup (VPS13B)	XP_024302842.1:n.*55_*59dup
NM_017890.5:c.*55_*59dup (VPS13B) MANE Plus Clinical	NP_060360.3:n.*55_*59dup
NM_152564.5:c.*55_*59dup (VPS13B) MANE Select	NP_689777.3:n.*55_*59dup