Canonical Allele Identifier: CA2781479955
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99835810_99835811insACTG , CM000670.2:g.99835810_99835811insACTG GRCh38
NC_000008.10:g.100848038_100848039insACTG , CM000670.1:g.100848038_100848039insACTG GRCh37
NC_000008.9:g.100917214_100917215insACTG NCBI36
NG_007098.2:g.827545_827546insACTG , LRG_351:g.827545_827546insACTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.10017+72_10017+73insACTG ENSP00000507923.1:n.10017+72_10017+73insACTG
ENST00000682358.1:n.10087+72_10087+73insACTG
ENST00000683334.1:c.*5699+72_*5699+73insACTG ENSP00000507369.1:n.*5699+72_*5699+73insACTG
ENST00000357162.7:c.9942+72_9942+73insACTG MANE Select ENSP00000349685.2:n.9942+72_9942+73insACTG
ENST00000358544.7:c.10017+72_10017+73insACTG MANE Plus Clinical ENSP00000351346.2:n.10017+72_10017+73insACTG
ENST00000357162.6:c.9942+72_9942+73insACTG ENSP00000349685.2:n.9942+72_9942+73insACTG
ENST00000358544.6:c.10017+72_10017+73insACTG ENSP00000351346.2:n.10017+72_10017+73insACTG
NM_017890.4:c.10017+72_10017+73insACTG , LRG_351t1:c.10017+72_10017+73insACTG NP_060360.3:n.10017+72_10017+73insACTG
NM_152564.4:c.9942+72_9942+73insACTG , LRG_351t2:c.9942+72_9942+73insACTG NP_689777.3:n.9942+72_9942+73insACTG
XM_005250800.2:c.10017+72_10017+73insACTG XP_005250857.1:n.10017+72_10017+73insACTG
XM_005250801.3:c.10017+72_10017+73insACTG XP_005250858.1:n.10017+72_10017+73insACTG
XM_011516848.1:c.10014+72_10014+73insACTG XP_011515150.1:n.10014+72_10014+73insACTG
XM_011516849.1:c.9939+72_9939+73insACTG XP_011515151.1:n.9939+72_9939+73insACTG
XM_011516850.1:c.9639+72_9639+73insACTG XP_011515152.1:n.9639+72_9639+73insACTG
XM_011516851.1:c.6903+72_6903+73insACTG XP_011515153.1:n.6903+72_6903+73insACTG
XM_011516852.1:c.6903+72_6903+73insACTG XP_011515154.1:n.6903+72_6903+73insACTG
XM_011516854.1:c.5796+72_5796+73insACTG XP_011515156.1:n.5796+72_5796+73insACTG
XM_005250800.3:c.10017+72_10017+73insACTG XP_005250857.1:n.10017+72_10017+73insACTG
XM_005250801.5:c.10017+72_10017+73insACTG XP_005250858.1:n.10017+72_10017+73insACTG
XM_011516848.2:c.10014+72_10014+73insACTG XP_011515150.1:n.10014+72_10014+73insACTG
XM_011516849.2:c.9939+72_9939+73insACTG XP_011515151.1:n.9939+72_9939+73insACTG
XM_011516850.2:c.9639+72_9639+73insACTG XP_011515152.1:n.9639+72_9639+73insACTG
XM_011516851.2:c.6903+72_6903+73insACTG XP_011515153.1:n.6903+72_6903+73insACTG
XM_011516852.2:c.6903+72_6903+73insACTG XP_011515154.1:n.6903+72_6903+73insACTG
XM_011516854.2:c.5796+72_5796+73insACTG XP_011515156.1:n.5796+72_5796+73insACTG
XM_017013109.1:c.9822+72_9822+73insACTG XP_016868598.1:n.9822+72_9822+73insACTG
XM_017013111.1:c.6903+72_6903+73insACTG XP_016868600.1:n.6903+72_6903+73insACTG
XM_017013112.1:c.5574+72_5574+73insACTG XP_016868601.1:n.5574+72_5574+73insACTG
XM_024447074.1:c.8802+72_8802+73insACTG XP_024302842.1:n.8802+72_8802+73insACTG
NM_017890.5:c.10017+72_10017+73insACTG MANE Plus Clinical NP_060360.3:n.10017+72_10017+73insACTG
NM_152564.5:c.9942+72_9942+73insACTG MANE Select NP_689777.3:n.9942+72_9942+73insACTG