Canonical Allele Identifier: CA5136378

Gene: FBP1

Linked Data

• dbSNP Id: rs752128198
• ExAC: 9:97401631 G / GGCAGGTGCGGGGCT
• gnomAD v2: 9-97401631-G-GGCAGGTGCGGGGCT
• gnomAD v3: 9-94639349-G-GGCAGGTGCGGGGCT
• gnomAD v4: 9-94639349-G-GGCAGGTGCGGGGCT
• MyVariant Identifiers: chr9:g.97401645_97401646insGCAGGTGCGGGGCT (hg19) ; chr9:g.97401631_97401632insGCAGGTGCGGGGCT (hg19) ; chr9:g.94639363_94639364insGCAGGTGCGGGGCT (hg38) ; chr9:g.94639349_94639350insGCAGGTGCGGGGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.94639361_94639374dup , CM000671.2:g.94639361_94639374dup	GRCh38
NC_000009.11:g.97401643_97401656dup , CM000671.1:g.97401643_97401656dup	GRCh37
NC_000009.10:g.96441464_96441477dup	NCBI36
NG_008174.1:g.5887_5900dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375326.9:c.-53_-40dup MANE Select	ENSP00000364475.5:n.-53_-40dup
ENST00000375326.8:c.-53_-40dup	ENSP00000364475.4:n.-53_-40dup
ENST00000414122.1:c.-83+681_-83+694dup	ENSP00000411619.1:n.-83+681_-83+694dup
ENST00000415431.5:c.-24-29_-24-16dup	ENSP00000408025.1:n.-24-29_-24-16dup
NM_000507.3:c.-53_-40dup	NP_000498.2:n.-53_-40dup
NM_001127628.1:c.-24-29_-24-16dup	NP_001121100.1:n.-24-29_-24-16dup
XM_006717005.2:c.-77+681_-77+694dup	XP_006717068.1:n.-77+681_-77+694dup
XM_006717005.4:c.-77+681_-77+694dup	XP_006717068.1:n.-77+681_-77+694dup
NM_000507.4:c.-53_-40dup MANE Select	NP_000498.2:n.-53_-40dup
NM_001127628.2:c.-24-29_-24-16dup	NP_001121100.1:n.-24-29_-24-16dup