Canonical Allele Identifier: CA2497230834
Gene: VPS13B HGNC NCBI

Linked Data

dbSNP Id: rs1811787439

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99777227_99777230dup , CM000670.2:g.99777227_99777230dup GRCh38
NC_000008.10:g.100789455_100789458dup , CM000670.1:g.100789455_100789458dup GRCh37
NC_000008.9:g.100858631_100858634dup NCBI36
NG_007098.2:g.768962_768965dup , LRG_351:g.768962_768965dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.7504+271_7504+274dup ENSP00000507923.1:n.7504+271_7504+274dup
ENST00000682358.1:n.7574+271_7574+274dup
ENST00000683334.1:c.*3186+271_*3186+274dup ENSP00000507369.1:n.*3186+271_*3186+274dup
ENST00000357162.7:c.7429+271_7429+274dup MANE Select ENSP00000349685.2:n.7429+271_7429+274dup
ENST00000358544.7:c.7504+271_7504+274dup MANE Plus Clinical ENSP00000351346.2:n.7504+271_7504+274dup
ENST00000357162.6:c.7429+271_7429+274dup ENSP00000349685.2:n.7429+271_7429+274dup
ENST00000358544.6:c.7504+271_7504+274dup ENSP00000351346.2:n.7504+271_7504+274dup
ENST00000518569.1:n.378-1455_378-1452dup
NM_017890.4:c.7504+271_7504+274dup , LRG_351t1:c.7504+271_7504+274dup NP_060360.3:n.7504+271_7504+274dup
NM_152564.4:c.7429+271_7429+274dup , LRG_351t2:c.7429+271_7429+274dup NP_689777.3:n.7429+271_7429+274dup
XM_005250800.2:c.7504+271_7504+274dup XP_005250857.1:n.7504+271_7504+274dup
XM_005250801.3:c.7504+271_7504+274dup XP_005250858.1:n.7504+271_7504+274dup
XM_011516848.1:c.7501+271_7501+274dup XP_011515150.1:n.7501+271_7501+274dup
XM_011516849.1:c.7426+271_7426+274dup XP_011515151.1:n.7426+271_7426+274dup
XM_011516850.1:c.7126+271_7126+274dup XP_011515152.1:n.7126+271_7126+274dup
XM_011516851.1:c.4390+271_4390+274dup XP_011515153.1:n.4390+271_4390+274dup
XM_011516852.1:c.4390+271_4390+274dup XP_011515154.1:n.4390+271_4390+274dup
XM_011516853.1:c.7504+271_7504+274dup XP_011515155.1:n.7504+271_7504+274dup
XM_011516854.1:c.3283+271_3283+274dup XP_011515156.1:n.3283+271_3283+274dup
XR_928446.1:n.1830+5248_1830+5251dup
XM_005250800.3:c.7504+271_7504+274dup XP_005250857.1:n.7504+271_7504+274dup
XM_005250801.5:c.7504+271_7504+274dup XP_005250858.1:n.7504+271_7504+274dup
XM_011516848.2:c.7501+271_7501+274dup XP_011515150.1:n.7501+271_7501+274dup
XM_011516849.2:c.7426+271_7426+274dup XP_011515151.1:n.7426+271_7426+274dup
XM_011516850.2:c.7126+271_7126+274dup XP_011515152.1:n.7126+271_7126+274dup
XM_011516851.2:c.4390+271_4390+274dup XP_011515153.1:n.4390+271_4390+274dup
XM_011516852.2:c.4390+271_4390+274dup XP_011515154.1:n.4390+271_4390+274dup
XM_011516853.2:c.7504+271_7504+274dup XP_011515155.1:n.7504+271_7504+274dup
XM_011516854.2:c.3283+271_3283+274dup XP_011515156.1:n.3283+271_3283+274dup
XM_017013109.1:c.7309+271_7309+274dup XP_016868598.1:n.7309+271_7309+274dup
XM_017013111.1:c.4390+271_4390+274dup XP_016868600.1:n.4390+271_4390+274dup
XM_017013112.1:c.3061+271_3061+274dup XP_016868601.1:n.3061+271_3061+274dup
XM_024447074.1:c.6289+271_6289+274dup XP_024302842.1:n.6289+271_6289+274dup
NM_017890.5:c.7504+271_7504+274dup MANE Plus Clinical NP_060360.3:n.7504+271_7504+274dup
NM_152564.5:c.7429+271_7429+274dup MANE Select NP_689777.3:n.7429+271_7429+274dup