Canonical Allele Identifier: CA915948971

Linked Data

ClinVar Variation Id: 807331
ClinVar RCV Id: RCV000995445
dbSNP Id: rs1596549676

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681597del , CM000678.2:g.681597del GRCh38
NC_000016.9:g.731597del , CM000678.1:g.731597del GRCh37
NC_000016.8:g.671598del NCBI36
NG_034141.1:g.6487del

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.518del (STUB1) MANE Select ENSP00000219548.4:p.Arg173LeufsTer?
ENST00000219548.8:c.518del (STUB1) ENSP00000219548.4:p.Arg173LeufsTer?
ENST00000563505.5:n.614del (STUB1)
ENST00000564316.1:c.117del (STUB1)
ENST00000564370.5:c.302del (STUB1) ENSP00000456875.1:p.Arg101LeufsTer?
ENST00000565677.5:c.302del (STUB1) ENSP00000457228.1:p.Arg101LeufsTer?
ENST00000566181.2:n.287del (STUB1)
ENST00000566408.5:c.235del (STUB1)
ENST00000567173.5:c.461del (STUB1) ENSP00000456591.1:p.Arg154LeufsTer?
ENST00000569248.5:n.1092del (STUB1)
ENST00000620831.4:c.-50+38294del (MSLN) ENSP00000482893.1:n.-50+38294del
NM_001293197.1:c.302del (STUB1) NP_001280126.1:p.Arg101LeufsTer?
NM_005861.3:c.518del (STUB1) NP_005852.2:p.Arg173LeufsTer?
NM_005861.4:c.518del (STUB1) MANE Select NP_005852.2:p.Arg173LeufsTer?
NM_001293197.2:c.302del (STUB1) NP_001280126.1:p.Arg101LeufsTer?