Canonical Allele Identifier: CA2688072950

Gene: VPS13B COX6C

Linked Data

• gnomAD v4: 8-99875807-A-ACTGCAAGCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875812_99875821dup , CM000670.2:g.99875812_99875821dup	GRCh38
NC_000008.10:g.100888040_100888049dup , CM000670.1:g.100888040_100888049dup	GRCh37
NC_000008.9:g.100957216_100957225dup	NCBI36
NG_007098.2:g.867547_867556dup , LRG_351:g.867547_867556dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1869_*1878dup (VPS13B)	ENSP00000507923.1:n.*1869_*1878dup
ENST00000682358.1:n.12845_12854dup (VPS13B)
ENST00000683334.1:c.*7897_*7906dup (VPS13B)	ENSP00000507369.1:n.*7897_*7906dup
ENST00000357162.7:c.*146_*155dup (VPS13B) MANE Select	ENSP00000349685.2:n.*146_*155dup
ENST00000358544.7:c.*146_*155dup (VPS13B) MANE Plus Clinical	ENSP00000351346.2:n.*146_*155dup
ENST00000357162.6:c.*146_*155dup (VPS13B)	ENSP00000349685.2:n.*146_*155dup
ENST00000358544.6:c.*146_*155dup (VPS13B)	ENSP00000351346.2:n.*146_*155dup
ENST00000493587.1:n.1717_1726dup (VPS13B)
ENST00000520517.5:c.*142-725_*142-716dup (COX6C)	ENSP00000429991.1:n.*142-725_*142-716dup
ENST00000522934.5:c.*141+2323_*141+2332dup (COX6C)	ENSP00000428702.1:n.*141+2323_*141+2332dup
NM_017890.4:c.*146_*155dup , LRG_351t1:c.*146_*155dup (VPS13B)	NP_060360.3:n.*146_*155dup
NM_152564.4:c.*146_*155dup , LRG_351t2:c.*146_*155dup (VPS13B)	NP_689777.3:n.*146_*155dup
XM_005250800.2:c.*146_*155dup (VPS13B)	XP_005250857.1:n.*146_*155dup
XM_005250801.3:c.*146_*155dup (VPS13B)	XP_005250858.1:n.*146_*155dup
XM_011516848.1:c.*146_*155dup (VPS13B)	XP_011515150.1:n.*146_*155dup
XM_011516849.1:c.*146_*155dup (VPS13B)	XP_011515151.1:n.*146_*155dup
XM_011516850.1:c.*146_*155dup (VPS13B)	XP_011515152.1:n.*146_*155dup
XM_011516851.1:c.*146_*155dup (VPS13B)	XP_011515153.1:n.*146_*155dup
XM_011516852.1:c.*146_*155dup (VPS13B)	XP_011515154.1:n.*146_*155dup
XM_011516854.1:c.*146_*155dup (VPS13B)	XP_011515156.1:n.*146_*155dup
XM_005250800.3:c.*146_*155dup (VPS13B)	XP_005250857.1:n.*146_*155dup
XM_005250801.5:c.*146_*155dup (VPS13B)	XP_005250858.1:n.*146_*155dup
XM_011516848.2:c.*146_*155dup (VPS13B)	XP_011515150.1:n.*146_*155dup
XM_011516849.2:c.*146_*155dup (VPS13B)	XP_011515151.1:n.*146_*155dup
XM_011516850.2:c.*146_*155dup (VPS13B)	XP_011515152.1:n.*146_*155dup
XM_011516851.2:c.*146_*155dup (VPS13B)	XP_011515153.1:n.*146_*155dup
XM_011516852.2:c.*146_*155dup (VPS13B)	XP_011515154.1:n.*146_*155dup
XM_011516854.2:c.*146_*155dup (VPS13B)	XP_011515156.1:n.*146_*155dup
XM_017013109.1:c.*146_*155dup (VPS13B)	XP_016868598.1:n.*146_*155dup
XM_017013111.1:c.*146_*155dup (VPS13B)	XP_016868600.1:n.*146_*155dup
XM_017013112.1:c.*146_*155dup (VPS13B)	XP_016868601.1:n.*146_*155dup
XM_024447074.1:c.*146_*155dup (VPS13B)	XP_024302842.1:n.*146_*155dup
NM_017890.5:c.*146_*155dup (VPS13B) MANE Plus Clinical	NP_060360.3:n.*146_*155dup
NM_152564.5:c.*146_*155dup (VPS13B) MANE Select	NP_689777.3:n.*146_*155dup