Canonical Allele Identifier: CA16042673
Gene: FBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372364
dbSNP Id: rs1057517733

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.94603438delinsCC , CM000671.2:g.94603438delinsCC GRCh38
NC_000009.11:g.97365720delinsCC , CM000671.1:g.97365720delinsCC GRCh37
NC_000009.10:g.96405541delinsCC NCBI36
NG_008174.1:g.41812delinsGG

Transcript Alleles

HGVS Amino-acid change
ENST00000682520.1:c.1120delinsGG ENSP00000507547.1:n.1120delinsGG
ENST00000375326.9:c.960delinsGG MANE Select ENSP00000364475.5:p.Ser321ValfsTer13
ENST00000648117.1:c.765delinsGG ENSP00000498145.1:p.Ser256ValfsTer13
ENST00000375326.8:c.960delinsGG ENSP00000364475.4:p.Ser321ValfsTer13
ENST00000415431.5:c.960delinsGG ENSP00000408025.1:p.Ser321ValfsTer13
NM_000507.3:c.960delinsGG NP_000498.2:p.Ser321ValfsTer13
NM_001127628.1:c.960delinsGG NP_001121100.1:p.Ser321ValfsTer13
XM_006717005.2:c.714delinsGG XP_006717068.1:p.Ser239ValfsTer13
XM_006717005.4:c.714delinsGG XP_006717068.1:p.Ser239ValfsTer13
NM_000507.4:c.960delinsGG MANE Select NP_000498.2:p.Ser321ValfsTer13
NM_001127628.2:c.960delinsGG NP_001121100.1:p.Ser321ValfsTer13