Canonical Allele Identifier: CA2688072860
Gene: VPS13B HGNC NCBI
COX6C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99875773_99875776del , CM000670.2:g.99875773_99875776del GRCh38
NC_000008.10:g.100888001_100888004del , CM000670.1:g.100888001_100888004del GRCh37
NC_000008.9:g.100957177_100957180del NCBI36
NG_007098.2:g.867508_867511del , LRG_351:g.867508_867511del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.*1830_*1833del (VPS13B) ENSP00000507923.1:n.*1830_*1833del
ENST00000682358.1:n.12806_12809del (VPS13B)
ENST00000683334.1:c.*7858_*7861del (VPS13B) ENSP00000507369.1:n.*7858_*7861del
ENST00000357162.7:c.*107_*110del (VPS13B) MANE Select ENSP00000349685.2:n.*107_*110del
ENST00000358544.7:c.*107_*110del (VPS13B) MANE Plus Clinical ENSP00000351346.2:n.*107_*110del
ENST00000357162.6:c.*107_*110del (VPS13B) ENSP00000349685.2:n.*107_*110del
ENST00000358544.6:c.*107_*110del (VPS13B) ENSP00000351346.2:n.*107_*110del
ENST00000493587.1:n.1678_1681del (VPS13B)
ENST00000520517.5:c.*142-681_*142-678del (COX6C) ENSP00000429991.1:n.*142-681_*142-678del
ENST00000522934.5:c.*141+2367_*141+2370del (COX6C) ENSP00000428702.1:n.*141+2367_*141+2370del
NM_017890.4:c.*107_*110del , LRG_351t1:c.*107_*110del (VPS13B) NP_060360.3:n.*107_*110del
NM_152564.4:c.*107_*110del , LRG_351t2:c.*107_*110del (VPS13B) NP_689777.3:n.*107_*110del
XM_005250800.2:c.*107_*110del (VPS13B) XP_005250857.1:n.*107_*110del
XM_005250801.3:c.*107_*110del (VPS13B) XP_005250858.1:n.*107_*110del
XM_011516848.1:c.*107_*110del (VPS13B) XP_011515150.1:n.*107_*110del
XM_011516849.1:c.*107_*110del (VPS13B) XP_011515151.1:n.*107_*110del
XM_011516850.1:c.*107_*110del (VPS13B) XP_011515152.1:n.*107_*110del
XM_011516851.1:c.*107_*110del (VPS13B) XP_011515153.1:n.*107_*110del
XM_011516852.1:c.*107_*110del (VPS13B) XP_011515154.1:n.*107_*110del
XM_011516854.1:c.*107_*110del (VPS13B) XP_011515156.1:n.*107_*110del
XM_005250800.3:c.*107_*110del (VPS13B) XP_005250857.1:n.*107_*110del
XM_005250801.5:c.*107_*110del (VPS13B) XP_005250858.1:n.*107_*110del
XM_011516848.2:c.*107_*110del (VPS13B) XP_011515150.1:n.*107_*110del
XM_011516849.2:c.*107_*110del (VPS13B) XP_011515151.1:n.*107_*110del
XM_011516850.2:c.*107_*110del (VPS13B) XP_011515152.1:n.*107_*110del
XM_011516851.2:c.*107_*110del (VPS13B) XP_011515153.1:n.*107_*110del
XM_011516852.2:c.*107_*110del (VPS13B) XP_011515154.1:n.*107_*110del
XM_011516854.2:c.*107_*110del (VPS13B) XP_011515156.1:n.*107_*110del
XM_017013109.1:c.*107_*110del (VPS13B) XP_016868598.1:n.*107_*110del
XM_017013111.1:c.*107_*110del (VPS13B) XP_016868600.1:n.*107_*110del
XM_017013112.1:c.*107_*110del (VPS13B) XP_016868601.1:n.*107_*110del
XM_024447074.1:c.*107_*110del (VPS13B) XP_024302842.1:n.*107_*110del
NM_017890.5:c.*107_*110del (VPS13B) MANE Plus Clinical NP_060360.3:n.*107_*110del
NM_152564.5:c.*107_*110del (VPS13B) MANE Select NP_689777.3:n.*107_*110del