Canonical Allele Identifier: CA2781478515
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99777097_99777098insA , CM000670.2:g.99777097_99777098insA GRCh38
NC_000008.10:g.100789325_100789326insA , CM000670.1:g.100789325_100789326insA GRCh37
NC_000008.9:g.100858501_100858502insA NCBI36
NG_007098.2:g.768832_768833insA , LRG_351:g.768832_768833insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.7504+141_7504+142insA ENSP00000507923.1:n.7504+141_7504+142insA
ENST00000682358.1:n.7574+141_7574+142insA
ENST00000683334.1:c.*3186+141_*3186+142insA ENSP00000507369.1:n.*3186+141_*3186+142insA
ENST00000357162.7:c.7429+141_7429+142insA MANE Select ENSP00000349685.2:n.7429+141_7429+142insA
ENST00000358544.7:c.7504+141_7504+142insA MANE Plus Clinical ENSP00000351346.2:n.7504+141_7504+142insA
ENST00000357162.6:c.7429+141_7429+142insA ENSP00000349685.2:n.7429+141_7429+142insA
ENST00000358544.6:c.7504+141_7504+142insA ENSP00000351346.2:n.7504+141_7504+142insA
ENST00000518569.1:n.378-1585_378-1584insA
NM_017890.4:c.7504+141_7504+142insA , LRG_351t1:c.7504+141_7504+142insA NP_060360.3:n.7504+141_7504+142insA
NM_152564.4:c.7429+141_7429+142insA , LRG_351t2:c.7429+141_7429+142insA NP_689777.3:n.7429+141_7429+142insA
XM_005250800.2:c.7504+141_7504+142insA XP_005250857.1:n.7504+141_7504+142insA
XM_005250801.3:c.7504+141_7504+142insA XP_005250858.1:n.7504+141_7504+142insA
XM_011516848.1:c.7501+141_7501+142insA XP_011515150.1:n.7501+141_7501+142insA
XM_011516849.1:c.7426+141_7426+142insA XP_011515151.1:n.7426+141_7426+142insA
XM_011516850.1:c.7126+141_7126+142insA XP_011515152.1:n.7126+141_7126+142insA
XM_011516851.1:c.4390+141_4390+142insA XP_011515153.1:n.4390+141_4390+142insA
XM_011516852.1:c.4390+141_4390+142insA XP_011515154.1:n.4390+141_4390+142insA
XM_011516853.1:c.7504+141_7504+142insA XP_011515155.1:n.7504+141_7504+142insA
XM_011516854.1:c.3283+141_3283+142insA XP_011515156.1:n.3283+141_3283+142insA
XR_928446.1:n.1830+5380_1830+5381insT
XM_005250800.3:c.7504+141_7504+142insA XP_005250857.1:n.7504+141_7504+142insA
XM_005250801.5:c.7504+141_7504+142insA XP_005250858.1:n.7504+141_7504+142insA
XM_011516848.2:c.7501+141_7501+142insA XP_011515150.1:n.7501+141_7501+142insA
XM_011516849.2:c.7426+141_7426+142insA XP_011515151.1:n.7426+141_7426+142insA
XM_011516850.2:c.7126+141_7126+142insA XP_011515152.1:n.7126+141_7126+142insA
XM_011516851.2:c.4390+141_4390+142insA XP_011515153.1:n.4390+141_4390+142insA
XM_011516852.2:c.4390+141_4390+142insA XP_011515154.1:n.4390+141_4390+142insA
XM_011516853.2:c.7504+141_7504+142insA XP_011515155.1:n.7504+141_7504+142insA
XM_011516854.2:c.3283+141_3283+142insA XP_011515156.1:n.3283+141_3283+142insA
XM_017013109.1:c.7309+141_7309+142insA XP_016868598.1:n.7309+141_7309+142insA
XM_017013111.1:c.4390+141_4390+142insA XP_016868600.1:n.4390+141_4390+142insA
XM_017013112.1:c.3061+141_3061+142insA XP_016868601.1:n.3061+141_3061+142insA
XM_024447074.1:c.6289+141_6289+142insA XP_024302842.1:n.6289+141_6289+142insA
NM_017890.5:c.7504+141_7504+142insA MANE Plus Clinical NP_060360.3:n.7504+141_7504+142insA
NM_152564.5:c.7429+141_7429+142insA MANE Select NP_689777.3:n.7429+141_7429+142insA