Canonical Allele Identifier: CA2697557882

Gene: FBP1

Linked Data

• ClinVar Variation Id: 2772871
• ClinVar RCV Id: RCV003496818

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.94639179_94639180del , CM000671.2:g.94639179_94639180del	GRCh38
NC_000009.11:g.97401461_97401462del , CM000671.1:g.97401461_97401462del	GRCh37
NC_000009.10:g.96441282_96441283del	NCBI36
NG_008174.1:g.6070_6071del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682520.1:c.131_132del	ENSP00000507547.1:p.Ala44AspfsTer25
ENST00000375326.9:c.131_132del MANE Select	ENSP00000364475.5:p.Ala44AspfsTer25
ENST00000375326.8:c.131_132del	ENSP00000364475.4:p.Ala44AspfsTer25
ENST00000414122.1:c.-83+864_-83+865del	ENSP00000411619.1:n.-83+864_-83+865del
ENST00000415431.5:c.131_132del	ENSP00000408025.1:p.Ala44AspfsTer25
NM_000507.3:c.131_132del	NP_000498.2:p.Ala44AspfsTer25
NM_001127628.1:c.131_132del	NP_001121100.1:p.Ala44AspfsTer25
XM_006717005.2:c.-77+864_-77+865del	XP_006717068.1:n.-77+864_-77+865del
XM_006717005.4:c.-77+864_-77+865del	XP_006717068.1:n.-77+864_-77+865del
NM_000507.4:c.131_132del MANE Select	NP_000498.2:p.Ala44AspfsTer25
NM_001127628.2:c.131_132del	NP_001121100.1:p.Ala44AspfsTer25