Canonical Allele Identifier: CA2695210720
Gene: FBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.94603560del , CM000671.2:g.94603560del GRCh38
NC_000009.11:g.97365842del , CM000671.1:g.97365842del GRCh37
NC_000009.10:g.96405663del NCBI36
NG_008174.1:g.41690del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682520.1:c.998del ENSP00000507547.1:n.998del
ENST00000375326.9:c.838del MANE Select ENSP00000364475.5:p.Tyr280ThrfsTer25
ENST00000648117.1:c.643del ENSP00000498145.1:p.Tyr215ThrfsTer25
ENST00000375326.8:c.838del ENSP00000364475.4:p.Tyr280ThrfsTer25
ENST00000415431.5:c.838del ENSP00000408025.1:p.Tyr280ThrfsTer25
NM_000507.3:c.838del NP_000498.2:p.Tyr280ThrfsTer25
NM_001127628.1:c.838del NP_001121100.1:p.Tyr280ThrfsTer25
XM_006717005.2:c.592del XP_006717068.1:p.Tyr198ThrfsTer25
XM_006717005.4:c.592del XP_006717068.1:p.Tyr198ThrfsTer25
NM_000507.4:c.838del MANE Select NP_000498.2:p.Tyr280ThrfsTer25
NM_001127628.2:c.838del NP_001121100.1:p.Tyr280ThrfsTer25