Canonical Allele Identifier: CA2695220827

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411083delinsAG , CM000677.2:g.48411083delinsAG	GRCh38
NC_000015.9:g.48703280delinsAG , CM000677.1:g.48703280delinsAG	GRCh37
NC_000015.8:g.46490572delinsAG	NCBI36
NG_008805.2:g.239706delinsCT , LRG_778:g.239706delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1331delinsCT	ENSP00000453958.2:n.*1331delinsCT
ENST00000682158.1:n.1904delinsCT
ENST00000682170.1:n.2704delinsCT
ENST00000682767.1:n.1820delinsCT
ENST00000316623.10:c.8523delinsCT MANE Select	ENSP00000325527.5:p.Glu2841AspfsTer3
ENST00000316623.9:c.8523delinsCT	ENSP00000325527.5:p.Glu2841AspfsTer3
ENST00000559133.5:c.3892delinsCT
NM_000138.4:c.8523delinsCT , LRG_778t1:c.8523delinsCT	NP_000129.3:p.Glu2841AspfsTer3
NM_000138.5:c.8523delinsCT MANE Select	NP_000129.3:p.Glu2841AspfsTer3