Canonical Allele Identifier: CA913190207
Gene: FBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 619962
ClinVar RCV Id: RCV000760155
dbSNP Id: rs1563991556

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.94639141_94639310del , CM000671.2:g.94639141_94639310del GRCh38
NC_000009.11:g.97401423_97401592del , CM000671.1:g.97401423_97401592del GRCh37
NC_000009.10:g.96441244_96441413del NCBI36
NG_008174.1:g.5940_6109del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682520.1:c.1_170del ENSP00000507547.1:p.Met1LeufsTer12
ENST00000375326.9:c.1_170del MANE Select ENSP00000364475.5:p.Met1LeufsTer12
ENST00000375326.8:c.1_170del ENSP00000364475.4:p.Met1LeufsTer12
ENST00000414122.1:c.-83+734_-83+903del ENSP00000411619.1:n.-83+734_-83+903del
ENST00000415431.5:c.1_170del ENSP00000408025.1:p.Met1LeufsTer12
NM_000507.3:c.1_170del NP_000498.2:p.Met1LeufsTer12
NM_001127628.1:c.1_170del NP_001121100.1:p.Met1LeufsTer12
XM_006717005.2:c.-77+734_-77+903del XP_006717068.1:n.-77+734_-77+903del
XM_006717005.4:c.-77+734_-77+903del XP_006717068.1:n.-77+734_-77+903del
NM_000507.4:c.1_170del MANE Select NP_000498.2:p.Met1LeufsTer12
NM_001127628.2:c.1_170del NP_001121100.1:p.Met1LeufsTer12