Canonical Allele Identifier: CA2690770935

Gene: FBP1

Linked Data

• gnomAD v4: 9-94603536-C-CGTAGGCCATGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.94603537_94603549dup , CM000671.2:g.94603537_94603549dup	GRCh38
NC_000009.11:g.97365819_97365831dup , CM000671.1:g.97365819_97365831dup	GRCh37
NC_000009.10:g.96405640_96405652dup	NCBI36
NG_008174.1:g.41701_41713dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682520.1:c.1009_1021dup	ENSP00000507547.1:n.1009_1021dup
ENST00000375326.9:c.849_861dup MANE Select	ENSP00000364475.5:p.Val288ProfsTer?
ENST00000648117.1:c.654_666dup	ENSP00000498145.1:p.Val223ProfsTer?
ENST00000375326.8:c.849_861dup	ENSP00000364475.4:p.Val288ProfsTer?
ENST00000415431.5:c.849_861dup	ENSP00000408025.1:p.Val288ProfsTer?
NM_000507.3:c.849_861dup	NP_000498.2:p.Val288ProfsTer?
NM_001127628.1:c.849_861dup	NP_001121100.1:p.Val288ProfsTer?
XM_006717005.2:c.603_615dup	XP_006717068.1:p.Val206ProfsTer?
XM_006717005.4:c.603_615dup	XP_006717068.1:p.Val206ProfsTer?
NM_000507.4:c.849_861dup MANE Select	NP_000498.2:p.Val288ProfsTer?
NM_001127628.2:c.849_861dup	NP_001121100.1:p.Val288ProfsTer?