Canonical Allele Identifier: CA2781479965
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99835819_99835820insG , CM000670.2:g.99835819_99835820insG GRCh38
NC_000008.10:g.100848047_100848048insG , CM000670.1:g.100848047_100848048insG GRCh37
NC_000008.9:g.100917223_100917224insG NCBI36
NG_007098.2:g.827554_827555insG , LRG_351:g.827554_827555insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.10017+81_10017+82insG ENSP00000507923.1:n.10017+81_10017+82insG
ENST00000682358.1:n.10087+81_10087+82insG
ENST00000683334.1:c.*5699+81_*5699+82insG ENSP00000507369.1:n.*5699+81_*5699+82insG
ENST00000357162.7:c.9942+81_9942+82insG MANE Select ENSP00000349685.2:n.9942+81_9942+82insG
ENST00000358544.7:c.10017+81_10017+82insG MANE Plus Clinical ENSP00000351346.2:n.10017+81_10017+82insG
ENST00000357162.6:c.9942+81_9942+82insG ENSP00000349685.2:n.9942+81_9942+82insG
ENST00000358544.6:c.10017+81_10017+82insG ENSP00000351346.2:n.10017+81_10017+82insG
NM_017890.4:c.10017+81_10017+82insG , LRG_351t1:c.10017+81_10017+82insG NP_060360.3:n.10017+81_10017+82insG
NM_152564.4:c.9942+81_9942+82insG , LRG_351t2:c.9942+81_9942+82insG NP_689777.3:n.9942+81_9942+82insG
XM_005250800.2:c.10017+81_10017+82insG XP_005250857.1:n.10017+81_10017+82insG
XM_005250801.3:c.10017+81_10017+82insG XP_005250858.1:n.10017+81_10017+82insG
XM_011516848.1:c.10014+81_10014+82insG XP_011515150.1:n.10014+81_10014+82insG
XM_011516849.1:c.9939+81_9939+82insG XP_011515151.1:n.9939+81_9939+82insG
XM_011516850.1:c.9639+81_9639+82insG XP_011515152.1:n.9639+81_9639+82insG
XM_011516851.1:c.6903+81_6903+82insG XP_011515153.1:n.6903+81_6903+82insG
XM_011516852.1:c.6903+81_6903+82insG XP_011515154.1:n.6903+81_6903+82insG
XM_011516854.1:c.5796+81_5796+82insG XP_011515156.1:n.5796+81_5796+82insG
XM_005250800.3:c.10017+81_10017+82insG XP_005250857.1:n.10017+81_10017+82insG
XM_005250801.5:c.10017+81_10017+82insG XP_005250858.1:n.10017+81_10017+82insG
XM_011516848.2:c.10014+81_10014+82insG XP_011515150.1:n.10014+81_10014+82insG
XM_011516849.2:c.9939+81_9939+82insG XP_011515151.1:n.9939+81_9939+82insG
XM_011516850.2:c.9639+81_9639+82insG XP_011515152.1:n.9639+81_9639+82insG
XM_011516851.2:c.6903+81_6903+82insG XP_011515153.1:n.6903+81_6903+82insG
XM_011516852.2:c.6903+81_6903+82insG XP_011515154.1:n.6903+81_6903+82insG
XM_011516854.2:c.5796+81_5796+82insG XP_011515156.1:n.5796+81_5796+82insG
XM_017013109.1:c.9822+81_9822+82insG XP_016868598.1:n.9822+81_9822+82insG
XM_017013111.1:c.6903+81_6903+82insG XP_016868600.1:n.6903+81_6903+82insG
XM_017013112.1:c.5574+81_5574+82insG XP_016868601.1:n.5574+81_5574+82insG
XM_024447074.1:c.8802+81_8802+82insG XP_024302842.1:n.8802+81_8802+82insG
NM_017890.5:c.10017+81_10017+82insG MANE Plus Clinical NP_060360.3:n.10017+81_10017+82insG
NM_152564.5:c.9942+81_9942+82insG MANE Select NP_689777.3:n.9942+81_9942+82insG