Canonical Allele Identifier: CA2781479995
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99835866_99835867insA , CM000670.2:g.99835866_99835867insA GRCh38
NC_000008.10:g.100848094_100848095insA , CM000670.1:g.100848094_100848095insA GRCh37
NC_000008.9:g.100917270_100917271insA NCBI36
NG_007098.2:g.827601_827602insA , LRG_351:g.827601_827602insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.10017+128_10017+129insA ENSP00000507923.1:n.10017+128_10017+129insA
ENST00000682358.1:n.10087+128_10087+129insA
ENST00000683334.1:c.*5699+128_*5699+129insA ENSP00000507369.1:n.*5699+128_*5699+129insA
ENST00000357162.7:c.9942+128_9942+129insA MANE Select ENSP00000349685.2:n.9942+128_9942+129insA
ENST00000358544.7:c.10017+128_10017+129insA MANE Plus Clinical ENSP00000351346.2:n.10017+128_10017+129insA
ENST00000357162.6:c.9942+128_9942+129insA ENSP00000349685.2:n.9942+128_9942+129insA
ENST00000358544.6:c.10017+128_10017+129insA ENSP00000351346.2:n.10017+128_10017+129insA
NM_017890.4:c.10017+128_10017+129insA , LRG_351t1:c.10017+128_10017+129insA NP_060360.3:n.10017+128_10017+129insA
NM_152564.4:c.9942+128_9942+129insA , LRG_351t2:c.9942+128_9942+129insA NP_689777.3:n.9942+128_9942+129insA
XM_005250800.2:c.10017+128_10017+129insA XP_005250857.1:n.10017+128_10017+129insA
XM_005250801.3:c.10017+128_10017+129insA XP_005250858.1:n.10017+128_10017+129insA
XM_011516848.1:c.10014+128_10014+129insA XP_011515150.1:n.10014+128_10014+129insA
XM_011516849.1:c.9939+128_9939+129insA XP_011515151.1:n.9939+128_9939+129insA
XM_011516850.1:c.9639+128_9639+129insA XP_011515152.1:n.9639+128_9639+129insA
XM_011516851.1:c.6903+128_6903+129insA XP_011515153.1:n.6903+128_6903+129insA
XM_011516852.1:c.6903+128_6903+129insA XP_011515154.1:n.6903+128_6903+129insA
XM_011516854.1:c.5796+128_5796+129insA XP_011515156.1:n.5796+128_5796+129insA
XM_005250800.3:c.10017+128_10017+129insA XP_005250857.1:n.10017+128_10017+129insA
XM_005250801.5:c.10017+128_10017+129insA XP_005250858.1:n.10017+128_10017+129insA
XM_011516848.2:c.10014+128_10014+129insA XP_011515150.1:n.10014+128_10014+129insA
XM_011516849.2:c.9939+128_9939+129insA XP_011515151.1:n.9939+128_9939+129insA
XM_011516850.2:c.9639+128_9639+129insA XP_011515152.1:n.9639+128_9639+129insA
XM_011516851.2:c.6903+128_6903+129insA XP_011515153.1:n.6903+128_6903+129insA
XM_011516852.2:c.6903+128_6903+129insA XP_011515154.1:n.6903+128_6903+129insA
XM_011516854.2:c.5796+128_5796+129insA XP_011515156.1:n.5796+128_5796+129insA
XM_017013109.1:c.9822+128_9822+129insA XP_016868598.1:n.9822+128_9822+129insA
XM_017013111.1:c.6903+128_6903+129insA XP_016868600.1:n.6903+128_6903+129insA
XM_017013112.1:c.5574+128_5574+129insA XP_016868601.1:n.5574+128_5574+129insA
XM_024447074.1:c.8802+128_8802+129insA XP_024302842.1:n.8802+128_8802+129insA
NM_017890.5:c.10017+128_10017+129insA MANE Plus Clinical NP_060360.3:n.10017+128_10017+129insA
NM_152564.5:c.9942+128_9942+129insA MANE Select NP_689777.3:n.9942+128_9942+129insA