Canonical Allele Identifier: CA2695220829

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411113del , CM000677.2:g.48411113del	GRCh38
NC_000015.9:g.48703310del , CM000677.1:g.48703310del	GRCh37
NC_000015.8:g.46490602del	NCBI36
NG_008805.2:g.239676del , LRG_778:g.239676del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1301del	ENSP00000453958.2:n.*1301del
ENST00000674301.2:c.*2006del	ENSP00000501333.2:n.*2006del
ENST00000682158.1:n.1874del
ENST00000682170.1:n.2674del
ENST00000682767.1:n.1790del
ENST00000316623.10:c.8493del MANE Select	ENSP00000325527.5:p.Ser2832ValfsTer14
ENST00000674301.1:c.3659del	ENSP00000501333.1:n.3659del
ENST00000316623.9:c.8493del	ENSP00000325527.5:p.Ser2832ValfsTer14
ENST00000559133.5:c.3862del
NM_000138.4:c.8493del , LRG_778t1:c.8493del	NP_000129.3:p.Ser2832ValfsTer14
NM_000138.5:c.8493del MANE Select	NP_000129.3:p.Ser2832ValfsTer14