Canonical Allele Identifier: CA2695220256

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437027del , CM000677.2:g.48437027del	GRCh38
NC_000015.9:g.48729224del , CM000677.1:g.48729224del	GRCh37
NC_000015.8:g.46516516del	NCBI36
NG_008805.2:g.213763del , LRG_778:g.213763del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6431del	ENSP00000453958.2:p.Asn2144IlefsTer16
ENST00000674301.2:c.6431del	ENSP00000501333.2:p.Asn2144IlefsTer16
ENST00000682170.1:n.40del
ENST00000316623.10:c.6431del MANE Select	ENSP00000325527.5:p.Asn2144IlefsTer16
ENST00000674301.1:c.1430del	ENSP00000501333.1:p.Asn477IlefsTer16
ENST00000316623.9:c.6431del	ENSP00000325527.5:p.Asn2144IlefsTer16
ENST00000537463.6:c.*2194del	ENSP00000440294.2:n.*2194del
ENST00000559133.5:c.1738del
NM_000138.4:c.6431del , LRG_778t1:c.6431del	NP_000129.3:p.Asn2144IlefsTer16
NM_000138.5:c.6431del MANE Select	NP_000129.3:p.Asn2144IlefsTer16