Canonical Allele Identifier: CA658658070

Gene: FIBP

Linked Data

• ClinVar Variation Id: 451590
• ClinVar RCV Id: RCV000523729
• dbSNP Id: rs1555046227
• MyVariant Identifiers: chr11:g.65653815del (hg19) ; chr11:g.65886344del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65886345del , CM000673.2:g.65886345del	GRCh38
NC_000011.9:g.65653816del , CM000673.1:g.65653816del	GRCh37
NC_000011.8:g.65410392del	NCBI36
NG_047103.1:g.7196del

Transcript Alleles

HGVS	Amino-acid change
ENST00000357519.9:c.490del MANE Select	ENSP00000350124.5:p.Leu164SerfsTer?
ENST00000338369.6:c.490del	ENSP00000344572.2:p.Leu164SerfsTer?
ENST00000357519.8:c.490del	ENSP00000350124.4:p.Leu164SerfsTer?
ENST00000426652.6:n.533del
ENST00000532229.1:c.412-681del	ENSP00000433683.1:n.412-681del
ENST00000532679.5:n.533del
ENST00000533037.5:c.412-681del	ENSP00000431414.1:n.412-681del
ENST00000533045.5:c.481del	ENSP00000434043.1:p.Leu161SerfsTer?
NM_004214.4:c.490del	NP_004205.2:p.Leu164SerfsTer?
NM_198897.1:c.490del	NP_942600.1:p.Leu164SerfsTer?
XR_950100.1:n.585del
XM_024448763.1:c.162-681del	XP_024304531.1:n.162-681del
XR_001748030.2:n.582del
XR_950100.2:n.582del
NM_004214.5:c.490del MANE Select	NP_004205.2:p.Leu164SerfsTer?
NM_198897.2:c.490del	NP_942600.1:p.Leu164SerfsTer?