Canonical Allele Identifier: CA2695220342

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48520780del , CM000677.2:g.48520780del	GRCh38
NC_000015.9:g.48812977del , CM000677.1:g.48812977del	GRCh37
NC_000015.8:g.46600269del	NCBI36
NG_008805.2:g.130009del , LRG_778:g.130009del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1026del	ENSP00000453958.2:p.Asn342LysfsTer12
ENST00000674301.2:c.1026del	ENSP00000501333.2:p.Asn342LysfsTer12
ENST00000316623.10:c.1026del MANE Select	ENSP00000325527.5:p.Asn342LysfsTer12
ENST00000316623.9:c.1026del	ENSP00000325527.5:p.Asn342LysfsTer12
ENST00000537463.6:c.636+16931del	ENSP00000440294.2:n.636+16931del
NM_000138.4:c.1026del , LRG_778t1:c.1026del	NP_000129.3:p.Asn342LysfsTer12
NM_000138.5:c.1026del MANE Select	NP_000129.3:p.Asn342LysfsTer12