Canonical Allele Identifier: CA1865265086
Gene: FBP1 HGNC NCBI

Linked Data

dbSNP Id: rs1828244565
gnomAD v3: 9-94639163-G-GGCAT
gnomAD v4: 9-94639163-G-GGCAT
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.94639163_94639164insGCAT , CM000671.2:g.94639163_94639164insGCAT GRCh38
NC_000009.11:g.97401445_97401446insGCAT , CM000671.1:g.97401445_97401446insGCAT GRCh37
NC_000009.10:g.96441266_96441267insGCAT NCBI36
NG_008174.1:g.6086_6087insATGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000682520.1:c.147_148insATGC ENSP00000507547.1:p.Arg50MetfsTer21
ENST00000375326.9:c.147_148insATGC MANE Select ENSP00000364475.5:p.Arg50MetfsTer21
ENST00000375326.8:c.147_148insATGC ENSP00000364475.4:p.Arg50MetfsTer21
ENST00000414122.1:c.-83+880_-83+881insATGC ENSP00000411619.1:n.-83+880_-83+881insATGC
ENST00000415431.5:c.147_148insATGC ENSP00000408025.1:p.Arg50MetfsTer21
NM_000507.3:c.147_148insATGC NP_000498.2:p.Arg50MetfsTer21
NM_001127628.1:c.147_148insATGC NP_001121100.1:p.Arg50MetfsTer21
XM_006717005.2:c.-77+880_-77+881insATGC XP_006717068.1:n.-77+880_-77+881insATGC
XM_006717005.4:c.-77+880_-77+881insATGC XP_006717068.1:n.-77+880_-77+881insATGC
NM_000507.4:c.147_148insATGC MANE Select NP_000498.2:p.Arg50MetfsTer21
NM_001127628.2:c.147_148insATGC NP_001121100.1:p.Arg50MetfsTer21
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