Canonical Allele Identifier: CA144255
Gene: CUBN HGNC NCBI

Linked Data

ClinVar Variation Id: 56323
dbSNP Id: rs386833771

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.17088246del , CM000672.2:g.17088246del GRCh38
NC_000010.10:g.17130245del , CM000672.1:g.17130245del GRCh37
NC_000010.9:g.17170251del NCBI36
NG_008967.1:g.46572del , LRG_540:g.46572del

Transcript Alleles

HGVS Amino-acid Change
ENST00000377833.10:c.1865del MANE Select ENSP00000367064.4:p.Thr622IlefsTer7
ENST00000377833.8:c.1865del ENSP00000367064.4:p.Thr622IlefsTer7
NM_001081.3:c.1865del , LRG_540t1:c.1865del NP_001072.2:p.Thr622IlefsTer7
XM_011519708.1:c.1865del XP_011518010.1:p.Thr622IlefsTer7
XM_011519708.2:c.1865del XP_011518010.1:p.Thr622IlefsTer7
NM_001081.4:c.1865del MANE Select NP_001072.2:p.Thr622IlefsTer7