Canonical Allele Identifier: CA2697557883

Gene: FBP1

Linked Data

• ClinVar Variation Id: 2719715
• ClinVar RCV Id: RCV003496910

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.94639255dup , CM000671.2:g.94639255dup	GRCh38
NC_000009.11:g.97401537dup , CM000671.1:g.97401537dup	GRCh37
NC_000009.10:g.96441358dup	NCBI36
NG_008174.1:g.5995dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682520.1:c.56dup	ENSP00000507547.1:p.Met19IlefsTer?
ENST00000375326.9:c.56dup MANE Select	ENSP00000364475.5:p.Met19IlefsTer?
ENST00000375326.8:c.56dup	ENSP00000364475.4:p.Met19IlefsTer?
ENST00000414122.1:c.-83+789dup	ENSP00000411619.1:n.-83+789dup
ENST00000415431.5:c.56dup	ENSP00000408025.1:p.Met19IlefsTer?
NM_000507.3:c.56dup	NP_000498.2:p.Met19IlefsTer?
NM_001127628.1:c.56dup	NP_001121100.1:p.Met19IlefsTer?
XM_006717005.2:c.-77+789dup	XP_006717068.1:n.-77+789dup
XM_006717005.4:c.-77+789dup	XP_006717068.1:n.-77+789dup
NM_000507.4:c.56dup MANE Select	NP_000498.2:p.Met19IlefsTer?
NM_001127628.2:c.56dup	NP_001121100.1:p.Met19IlefsTer?