Canonical Allele Identifier: CA2781479926
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99835798_99835808del , CM000670.2:g.99835798_99835808del GRCh38
NC_000008.10:g.100848026_100848036del , CM000670.1:g.100848026_100848036del GRCh37
NC_000008.9:g.100917202_100917212del NCBI36
NG_007098.2:g.827533_827543del , LRG_351:g.827533_827543del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.10017+60_10017+70del ENSP00000507923.1:n.10017+60_10017+70del
ENST00000682358.1:n.10087+60_10087+70del
ENST00000683334.1:c.*5699+60_*5699+70del ENSP00000507369.1:n.*5699+60_*5699+70del
ENST00000357162.7:c.9942+60_9942+70del MANE Select ENSP00000349685.2:n.9942+60_9942+70del
ENST00000358544.7:c.10017+60_10017+70del MANE Plus Clinical ENSP00000351346.2:n.10017+60_10017+70del
ENST00000357162.6:c.9942+60_9942+70del ENSP00000349685.2:n.9942+60_9942+70del
ENST00000358544.6:c.10017+60_10017+70del ENSP00000351346.2:n.10017+60_10017+70del
NM_017890.4:c.10017+60_10017+70del , LRG_351t1:c.10017+60_10017+70del NP_060360.3:n.10017+60_10017+70del
NM_152564.4:c.9942+60_9942+70del , LRG_351t2:c.9942+60_9942+70del NP_689777.3:n.9942+60_9942+70del
XM_005250800.2:c.10017+60_10017+70del XP_005250857.1:n.10017+60_10017+70del
XM_005250801.3:c.10017+60_10017+70del XP_005250858.1:n.10017+60_10017+70del
XM_011516848.1:c.10014+60_10014+70del XP_011515150.1:n.10014+60_10014+70del
XM_011516849.1:c.9939+60_9939+70del XP_011515151.1:n.9939+60_9939+70del
XM_011516850.1:c.9639+60_9639+70del XP_011515152.1:n.9639+60_9639+70del
XM_011516851.1:c.6903+60_6903+70del XP_011515153.1:n.6903+60_6903+70del
XM_011516852.1:c.6903+60_6903+70del XP_011515154.1:n.6903+60_6903+70del
XM_011516854.1:c.5796+60_5796+70del XP_011515156.1:n.5796+60_5796+70del
XM_005250800.3:c.10017+60_10017+70del XP_005250857.1:n.10017+60_10017+70del
XM_005250801.5:c.10017+60_10017+70del XP_005250858.1:n.10017+60_10017+70del
XM_011516848.2:c.10014+60_10014+70del XP_011515150.1:n.10014+60_10014+70del
XM_011516849.2:c.9939+60_9939+70del XP_011515151.1:n.9939+60_9939+70del
XM_011516850.2:c.9639+60_9639+70del XP_011515152.1:n.9639+60_9639+70del
XM_011516851.2:c.6903+60_6903+70del XP_011515153.1:n.6903+60_6903+70del
XM_011516852.2:c.6903+60_6903+70del XP_011515154.1:n.6903+60_6903+70del
XM_011516854.2:c.5796+60_5796+70del XP_011515156.1:n.5796+60_5796+70del
XM_017013109.1:c.9822+60_9822+70del XP_016868598.1:n.9822+60_9822+70del
XM_017013111.1:c.6903+60_6903+70del XP_016868600.1:n.6903+60_6903+70del
XM_017013112.1:c.5574+60_5574+70del XP_016868601.1:n.5574+60_5574+70del
XM_024447074.1:c.8802+60_8802+70del XP_024302842.1:n.8802+60_8802+70del
NM_017890.5:c.10017+60_10017+70del MANE Plus Clinical NP_060360.3:n.10017+60_10017+70del
NM_152564.5:c.9942+60_9942+70del MANE Select NP_689777.3:n.9942+60_9942+70del