Canonical Allele Identifier: CA5136089

Gene: FBP1

Linked Data

• dbSNP Id: rs745548617
• ExAC: 9:97365829 G / GA
• MyVariant Identifiers: chr9:g.97365829_97365830insA (hg19) ; chr9:g.94603547_94603548insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.94603547_94603548insA , CM000671.2:g.94603547_94603548insA	GRCh38
NC_000009.11:g.97365829_97365830insA , CM000671.1:g.97365829_97365830insA	GRCh37
NC_000009.10:g.96405650_96405651insA	NCBI36
NG_008174.1:g.41702_41703insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682520.1:c.1010_1011insT	ENSP00000507547.1:n.1010_1011insT
ENST00000375326.9:c.850_851insT MANE Select	ENSP00000364475.5:p.Pro284LeufsTer?
ENST00000648117.1:c.655_656insT	ENSP00000498145.1:p.Pro219LeufsTer?
ENST00000375326.8:c.850_851insT	ENSP00000364475.4:p.Pro284LeufsTer?
ENST00000415431.5:c.850_851insT	ENSP00000408025.1:p.Pro284LeufsTer?
NM_000507.3:c.850_851insT	NP_000498.2:p.Pro284LeufsTer?
NM_001127628.1:c.850_851insT	NP_001121100.1:p.Pro284LeufsTer?
XM_006717005.2:c.604_605insT	XP_006717068.1:p.Pro202LeufsTer?
XM_006717005.4:c.604_605insT	XP_006717068.1:p.Pro202LeufsTer?
NM_000507.4:c.850_851insT MANE Select	NP_000498.2:p.Pro284LeufsTer?
NM_001127628.2:c.850_851insT	NP_001121100.1:p.Pro284LeufsTer?