Canonical Allele Identifier: CA2690769927

Gene: FBP1

Linked Data

• gnomAD v4: 9-94639279-ACGTCCGTGTCGAAGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.94639282_94639297del , CM000671.2:g.94639282_94639297del	GRCh38
NC_000009.11:g.97401564_97401579del , CM000671.1:g.97401564_97401579del	GRCh37
NC_000009.10:g.96441385_96441400del	NCBI36
NG_008174.1:g.5955_5970del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682520.1:c.16_31del	ENSP00000507547.1:p.Pro6SerfsTer4
ENST00000375326.9:c.16_31del MANE Select	ENSP00000364475.5:p.Pro6SerfsTer4
ENST00000375326.8:c.16_31del	ENSP00000364475.4:p.Pro6SerfsTer4
ENST00000414122.1:c.-83+749_-83+764del	ENSP00000411619.1:n.-83+749_-83+764del
ENST00000415431.5:c.16_31del	ENSP00000408025.1:p.Pro6SerfsTer4
NM_000507.3:c.16_31del	NP_000498.2:p.Pro6SerfsTer4
NM_001127628.1:c.16_31del	NP_001121100.1:p.Pro6SerfsTer4
XM_006717005.2:c.-77+749_-77+764del	XP_006717068.1:n.-77+749_-77+764del
XM_006717005.4:c.-77+749_-77+764del	XP_006717068.1:n.-77+749_-77+764del
NM_000507.4:c.16_31del MANE Select	NP_000498.2:p.Pro6SerfsTer4
NM_001127628.2:c.16_31del	NP_001121100.1:p.Pro6SerfsTer4