Canonical Allele Identifier: CA4825399

Gene: VPS13B COX6C

Linked Data

• dbSNP Id: rs760390565
• ExAC: 8:100887941 GTTTC / G
• gnomAD v2: 8-100887941-GTTTC-G
• gnomAD v3: 8-99875713-GTTTC-G
• gnomAD v4: 8-99875713-GTTTC-G
• MyVariant Identifiers: chr8:g.100887942_100887945del (hg19) ; chr8:g.99875715_99875718del (hg38) ; chr8:g.99875714_99875717del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875717_99875720del , CM000670.2:g.99875717_99875720del	GRCh38
NC_000008.10:g.100887945_100887948del , CM000670.1:g.100887945_100887948del	GRCh37
NC_000008.9:g.100957121_100957124del	NCBI36
NG_007098.2:g.867452_867455del , LRG_351:g.867452_867455del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1774_*1777del (VPS13B)	ENSP00000507923.1:n.*1774_*1777del
ENST00000682358.1:n.12750_12753del (VPS13B)
ENST00000683334.1:c.*7802_*7805del (VPS13B)	ENSP00000507369.1:n.*7802_*7805del
ENST00000357162.7:c.*51_*54del (VPS13B) MANE Select	ENSP00000349685.2:n.*51_*54del
ENST00000358544.7:c.*51_*54del (VPS13B) MANE Plus Clinical	ENSP00000351346.2:n.*51_*54del
ENST00000357162.6:c.*51_*54del (VPS13B)	ENSP00000349685.2:n.*51_*54del
ENST00000358544.6:c.*51_*54del (VPS13B)	ENSP00000351346.2:n.*51_*54del
ENST00000493587.1:n.1622_1625del (VPS13B)
ENST00000520517.5:c.*142-625_*142-622del (COX6C)	ENSP00000429991.1:n.*142-625_*142-622del
ENST00000522934.5:c.*142-2424_*142-2421del (COX6C)	ENSP00000428702.1:n.*142-2424_*142-2421del
NM_017890.4:c.*51_*54del , LRG_351t1:c.*51_*54del (VPS13B)	NP_060360.3:n.*51_*54del
NM_152564.4:c.*51_*54del , LRG_351t2:c.*51_*54del (VPS13B)	NP_689777.3:n.*51_*54del
XM_005250800.2:c.*51_*54del (VPS13B)	XP_005250857.1:n.*51_*54del
XM_005250801.3:c.*51_*54del (VPS13B)	XP_005250858.1:n.*51_*54del
XM_011516848.1:c.*51_*54del (VPS13B)	XP_011515150.1:n.*51_*54del
XM_011516849.1:c.*51_*54del (VPS13B)	XP_011515151.1:n.*51_*54del
XM_011516850.1:c.*51_*54del (VPS13B)	XP_011515152.1:n.*51_*54del
XM_011516851.1:c.*51_*54del (VPS13B)	XP_011515153.1:n.*51_*54del
XM_011516852.1:c.*51_*54del (VPS13B)	XP_011515154.1:n.*51_*54del
XM_011516854.1:c.*51_*54del (VPS13B)	XP_011515156.1:n.*51_*54del
XM_005250800.3:c.*51_*54del (VPS13B)	XP_005250857.1:n.*51_*54del
XM_005250801.5:c.*51_*54del (VPS13B)	XP_005250858.1:n.*51_*54del
XM_011516848.2:c.*51_*54del (VPS13B)	XP_011515150.1:n.*51_*54del
XM_011516849.2:c.*51_*54del (VPS13B)	XP_011515151.1:n.*51_*54del
XM_011516850.2:c.*51_*54del (VPS13B)	XP_011515152.1:n.*51_*54del
XM_011516851.2:c.*51_*54del (VPS13B)	XP_011515153.1:n.*51_*54del
XM_011516852.2:c.*51_*54del (VPS13B)	XP_011515154.1:n.*51_*54del
XM_011516854.2:c.*51_*54del (VPS13B)	XP_011515156.1:n.*51_*54del
XM_017013109.1:c.*51_*54del (VPS13B)	XP_016868598.1:n.*51_*54del
XM_017013111.1:c.*51_*54del (VPS13B)	XP_016868600.1:n.*51_*54del
XM_017013112.1:c.*51_*54del (VPS13B)	XP_016868601.1:n.*51_*54del
XM_024447074.1:c.*51_*54del (VPS13B)	XP_024302842.1:n.*51_*54del
NM_017890.5:c.*51_*54del (VPS13B) MANE Plus Clinical	NP_060360.3:n.*51_*54del
NM_152564.5:c.*51_*54del (VPS13B) MANE Select	NP_689777.3:n.*51_*54del