Canonical Allele Identifier: CA16618871

Gene: FBP1

Linked Data

• ClinVar Variation Id: 419848
• ClinVar RCV Id: RCV000482146 ; RCV001261613
• dbSNP Id: rs1554682769
• MyVariant Identifiers: chr9:g.97401474_97401479dupGTGCAG (hg19) ; chr9:g.97401473_97401474insGTGCAG (hg19) ; chr9:g.94639192_94639197dupGTGCAG (hg38) ; chr9:g.94639191_94639192insGTGCAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.94639192_94639197dup , CM000671.2:g.94639192_94639197dup	GRCh38
NC_000009.11:g.97401474_97401479dup , CM000671.1:g.97401474_97401479dup	GRCh37
NC_000009.10:g.96441295_96441300dup	NCBI36
NG_008174.1:g.6053_6058dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682520.1:c.114_119dup	ENSP00000507547.1:p.Thr40_Ala41insCysThr
ENST00000375326.9:c.114_119dup MANE Select	ENSP00000364475.5:p.Thr40_Ala41insCysThr
ENST00000375326.8:c.114_119dup	ENSP00000364475.4:p.Thr40_Ala41insCysThr
ENST00000414122.1:c.-83+847_-83+852dup	ENSP00000411619.1:n.-83+847_-83+852dup
ENST00000415431.5:c.114_119dup	ENSP00000408025.1:p.Thr40_Ala41insCysThr
NM_000507.3:c.114_119dup	NP_000498.2:p.Thr40_Ala41insCysThr
NM_001127628.1:c.114_119dup	NP_001121100.1:p.Thr40_Ala41insCysThr
XM_006717005.2:c.-77+847_-77+852dup	XP_006717068.1:n.-77+847_-77+852dup
XM_006717005.4:c.-77+847_-77+852dup	XP_006717068.1:n.-77+847_-77+852dup
NM_000507.4:c.114_119dup MANE Select	NP_000498.2:p.Thr40_Ala41insCysThr
NM_001127628.2:c.114_119dup	NP_001121100.1:p.Thr40_Ala41insCysThr