Canonical Allele Identifier: CA2690769929

Gene: FBP1

Linked Data

• gnomAD v4: 9-94639303-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.94639304del , CM000671.2:g.94639304del	GRCh38
NC_000009.11:g.97401586del , CM000671.1:g.97401586del	GRCh37
NC_000009.10:g.96441407del	NCBI36
NG_008174.1:g.5946del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682520.1:c.7del	ENSP00000507547.1:p.Asp3ThrfsTer12
ENST00000375326.9:c.7del MANE Select	ENSP00000364475.5:p.Asp3ThrfsTer12
ENST00000375326.8:c.7del	ENSP00000364475.4:p.Asp3ThrfsTer12
ENST00000414122.1:c.-83+740del	ENSP00000411619.1:n.-83+740del
ENST00000415431.5:c.7del	ENSP00000408025.1:p.Asp3ThrfsTer12
NM_000507.3:c.7del	NP_000498.2:p.Asp3ThrfsTer12
NM_001127628.1:c.7del	NP_001121100.1:p.Asp3ThrfsTer12
XM_006717005.2:c.-77+740del	XP_006717068.1:n.-77+740del
XM_006717005.4:c.-77+740del	XP_006717068.1:n.-77+740del
NM_000507.4:c.7del MANE Select	NP_000498.2:p.Asp3ThrfsTer12
NM_001127628.2:c.7del	NP_001121100.1:p.Asp3ThrfsTer12