Canonical Allele Identifier: CA918511377

Gene: FBP1

Linked Data

• dbSNP Id: rs1563991612
• gnomAD v4: 9-94639210-AGCTGGGTCAACTCGCCCGTGCCGCGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.94639213_94639238del , CM000671.2:g.94639213_94639238del	GRCh38
NC_000009.11:g.97401495_97401520del , CM000671.1:g.97401495_97401520del	GRCh37
NC_000009.10:g.96441316_96441341del	NCBI36
NG_008174.1:g.6014_6039del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682520.1:c.75_100del	ENSP00000507547.1:p.Arg26AlafsTer?
ENST00000375326.9:c.75_100del MANE Select	ENSP00000364475.5:p.Arg26AlafsTer?
ENST00000375326.8:c.75_100del	ENSP00000364475.4:p.Arg26AlafsTer?
ENST00000414122.1:c.-83+808_-83+833del	ENSP00000411619.1:n.-83+808_-83+833del
ENST00000415431.5:c.75_100del	ENSP00000408025.1:p.Arg26AlafsTer?
NM_000507.3:c.75_100del	NP_000498.2:p.Arg26AlafsTer?
NM_001127628.1:c.75_100del	NP_001121100.1:p.Arg26AlafsTer?
XM_006717005.2:c.-77+808_-77+833del	XP_006717068.1:n.-77+808_-77+833del
XM_006717005.4:c.-77+808_-77+833del	XP_006717068.1:n.-77+808_-77+833del
NM_000507.4:c.75_100del MANE Select	NP_000498.2:p.Arg26AlafsTer?
NM_001127628.2:c.75_100del	NP_001121100.1:p.Arg26AlafsTer?