Canonical Allele Identifier: CA645294052
Gene: FBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 427178
ClinVar RCV Id: RCV000489247
dbSNP Id: rs1085308003
MyVariant Identifiers: chr9:g.97382677del (hg19) chr9:g.94620395del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.94620396del , CM000671.2:g.94620396del GRCh38
NC_000009.11:g.97382678del , CM000671.1:g.97382678del GRCh37
NC_000009.10:g.96422499del NCBI36
NG_008174.1:g.24855del

Transcript Alleles

HGVS Amino-acid change
ENST00000682520.1:c.267del ENSP00000507547.1:p.Phe90LeufsTer16
ENST00000375326.9:c.267del MANE Select ENSP00000364475.5:p.Phe90LeufsTer16
ENST00000648117.1:c.165del ENSP00000498145.1:p.Phe56LeufsTer16
ENST00000375326.8:c.267del ENSP00000364475.4:p.Phe90LeufsTer16
ENST00000414122.1:c.15del ENSP00000411619.1:p.Phe6LeufsTer16
ENST00000415431.5:c.267del ENSP00000408025.1:p.Phe90LeufsTer16
NM_000507.3:c.267del NP_000498.2:p.Phe90LeufsTer16
NM_001127628.1:c.267del NP_001121100.1:p.Phe90LeufsTer16
XM_006717005.2:c.21del XP_006717068.1:p.Phe8LeufsTer16
XM_006717005.4:c.21del XP_006717068.1:p.Phe8LeufsTer16
NM_000507.4:c.267del MANE Select NP_000498.2:p.Phe90LeufsTer16
NM_001127628.2:c.267del NP_001121100.1:p.Phe90LeufsTer16
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