Canonical Allele Identifier: CA2781479938
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99835804_99835805insACA , CM000670.2:g.99835804_99835805insACA GRCh38
NC_000008.10:g.100848032_100848033insACA , CM000670.1:g.100848032_100848033insACA GRCh37
NC_000008.9:g.100917208_100917209insACA NCBI36
NG_007098.2:g.827539_827540insACA , LRG_351:g.827539_827540insACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.10017+66_10017+67insACA ENSP00000507923.1:n.10017+66_10017+67insACA
ENST00000682358.1:n.10087+66_10087+67insACA
ENST00000683334.1:c.*5699+66_*5699+67insACA ENSP00000507369.1:n.*5699+66_*5699+67insACA
ENST00000357162.7:c.9942+66_9942+67insACA MANE Select ENSP00000349685.2:n.9942+66_9942+67insACA
ENST00000358544.7:c.10017+66_10017+67insACA MANE Plus Clinical ENSP00000351346.2:n.10017+66_10017+67insACA
ENST00000357162.6:c.9942+66_9942+67insACA ENSP00000349685.2:n.9942+66_9942+67insACA
ENST00000358544.6:c.10017+66_10017+67insACA ENSP00000351346.2:n.10017+66_10017+67insACA
NM_017890.4:c.10017+66_10017+67insACA , LRG_351t1:c.10017+66_10017+67insACA NP_060360.3:n.10017+66_10017+67insACA
NM_152564.4:c.9942+66_9942+67insACA , LRG_351t2:c.9942+66_9942+67insACA NP_689777.3:n.9942+66_9942+67insACA
XM_005250800.2:c.10017+66_10017+67insACA XP_005250857.1:n.10017+66_10017+67insACA
XM_005250801.3:c.10017+66_10017+67insACA XP_005250858.1:n.10017+66_10017+67insACA
XM_011516848.1:c.10014+66_10014+67insACA XP_011515150.1:n.10014+66_10014+67insACA
XM_011516849.1:c.9939+66_9939+67insACA XP_011515151.1:n.9939+66_9939+67insACA
XM_011516850.1:c.9639+66_9639+67insACA XP_011515152.1:n.9639+66_9639+67insACA
XM_011516851.1:c.6903+66_6903+67insACA XP_011515153.1:n.6903+66_6903+67insACA
XM_011516852.1:c.6903+66_6903+67insACA XP_011515154.1:n.6903+66_6903+67insACA
XM_011516854.1:c.5796+66_5796+67insACA XP_011515156.1:n.5796+66_5796+67insACA
XM_005250800.3:c.10017+66_10017+67insACA XP_005250857.1:n.10017+66_10017+67insACA
XM_005250801.5:c.10017+66_10017+67insACA XP_005250858.1:n.10017+66_10017+67insACA
XM_011516848.2:c.10014+66_10014+67insACA XP_011515150.1:n.10014+66_10014+67insACA
XM_011516849.2:c.9939+66_9939+67insACA XP_011515151.1:n.9939+66_9939+67insACA
XM_011516850.2:c.9639+66_9639+67insACA XP_011515152.1:n.9639+66_9639+67insACA
XM_011516851.2:c.6903+66_6903+67insACA XP_011515153.1:n.6903+66_6903+67insACA
XM_011516852.2:c.6903+66_6903+67insACA XP_011515154.1:n.6903+66_6903+67insACA
XM_011516854.2:c.5796+66_5796+67insACA XP_011515156.1:n.5796+66_5796+67insACA
XM_017013109.1:c.9822+66_9822+67insACA XP_016868598.1:n.9822+66_9822+67insACA
XM_017013111.1:c.6903+66_6903+67insACA XP_016868600.1:n.6903+66_6903+67insACA
XM_017013112.1:c.5574+66_5574+67insACA XP_016868601.1:n.5574+66_5574+67insACA
XM_024447074.1:c.8802+66_8802+67insACA XP_024302842.1:n.8802+66_8802+67insACA
NM_017890.5:c.10017+66_10017+67insACA MANE Plus Clinical NP_060360.3:n.10017+66_10017+67insACA
NM_152564.5:c.9942+66_9942+67insACA MANE Select NP_689777.3:n.9942+66_9942+67insACA