Canonical Allele Identifier: CA2781479943
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99835805_99835806insAGTT , CM000670.2:g.99835805_99835806insAGTT GRCh38
NC_000008.10:g.100848033_100848034insAGTT , CM000670.1:g.100848033_100848034insAGTT GRCh37
NC_000008.9:g.100917209_100917210insAGTT NCBI36
NG_007098.2:g.827540_827541insAGTT , LRG_351:g.827540_827541insAGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.10017+67_10017+68insAGTT ENSP00000507923.1:n.10017+67_10017+68insAGTT
ENST00000682358.1:n.10087+67_10087+68insAGTT
ENST00000683334.1:c.*5699+67_*5699+68insAGTT ENSP00000507369.1:n.*5699+67_*5699+68insAGTT
ENST00000357162.7:c.9942+67_9942+68insAGTT MANE Select ENSP00000349685.2:n.9942+67_9942+68insAGTT
ENST00000358544.7:c.10017+67_10017+68insAGTT MANE Plus Clinical ENSP00000351346.2:n.10017+67_10017+68insAGTT
ENST00000357162.6:c.9942+67_9942+68insAGTT ENSP00000349685.2:n.9942+67_9942+68insAGTT
ENST00000358544.6:c.10017+67_10017+68insAGTT ENSP00000351346.2:n.10017+67_10017+68insAGTT
NM_017890.4:c.10017+67_10017+68insAGTT , LRG_351t1:c.10017+67_10017+68insAGTT NP_060360.3:n.10017+67_10017+68insAGTT
NM_152564.4:c.9942+67_9942+68insAGTT , LRG_351t2:c.9942+67_9942+68insAGTT NP_689777.3:n.9942+67_9942+68insAGTT
XM_005250800.2:c.10017+67_10017+68insAGTT XP_005250857.1:n.10017+67_10017+68insAGTT
XM_005250801.3:c.10017+67_10017+68insAGTT XP_005250858.1:n.10017+67_10017+68insAGTT
XM_011516848.1:c.10014+67_10014+68insAGTT XP_011515150.1:n.10014+67_10014+68insAGTT
XM_011516849.1:c.9939+67_9939+68insAGTT XP_011515151.1:n.9939+67_9939+68insAGTT
XM_011516850.1:c.9639+67_9639+68insAGTT XP_011515152.1:n.9639+67_9639+68insAGTT
XM_011516851.1:c.6903+67_6903+68insAGTT XP_011515153.1:n.6903+67_6903+68insAGTT
XM_011516852.1:c.6903+67_6903+68insAGTT XP_011515154.1:n.6903+67_6903+68insAGTT
XM_011516854.1:c.5796+67_5796+68insAGTT XP_011515156.1:n.5796+67_5796+68insAGTT
XM_005250800.3:c.10017+67_10017+68insAGTT XP_005250857.1:n.10017+67_10017+68insAGTT
XM_005250801.5:c.10017+67_10017+68insAGTT XP_005250858.1:n.10017+67_10017+68insAGTT
XM_011516848.2:c.10014+67_10014+68insAGTT XP_011515150.1:n.10014+67_10014+68insAGTT
XM_011516849.2:c.9939+67_9939+68insAGTT XP_011515151.1:n.9939+67_9939+68insAGTT
XM_011516850.2:c.9639+67_9639+68insAGTT XP_011515152.1:n.9639+67_9639+68insAGTT
XM_011516851.2:c.6903+67_6903+68insAGTT XP_011515153.1:n.6903+67_6903+68insAGTT
XM_011516852.2:c.6903+67_6903+68insAGTT XP_011515154.1:n.6903+67_6903+68insAGTT
XM_011516854.2:c.5796+67_5796+68insAGTT XP_011515156.1:n.5796+67_5796+68insAGTT
XM_017013109.1:c.9822+67_9822+68insAGTT XP_016868598.1:n.9822+67_9822+68insAGTT
XM_017013111.1:c.6903+67_6903+68insAGTT XP_016868600.1:n.6903+67_6903+68insAGTT
XM_017013112.1:c.5574+67_5574+68insAGTT XP_016868601.1:n.5574+67_5574+68insAGTT
XM_024447074.1:c.8802+67_8802+68insAGTT XP_024302842.1:n.8802+67_8802+68insAGTT
NM_017890.5:c.10017+67_10017+68insAGTT MANE Plus Clinical NP_060360.3:n.10017+67_10017+68insAGTT
NM_152564.5:c.9942+67_9942+68insAGTT MANE Select NP_689777.3:n.9942+67_9942+68insAGTT