Canonical Allele Identifier: CA2695220587

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48467979del , CM000677.2:g.48467979del	GRCh38
NC_000015.9:g.48760176del , CM000677.1:g.48760176del	GRCh37
NC_000015.8:g.46547468del	NCBI36
NG_008805.2:g.182811del , LRG_778:g.182811del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4707del	ENSP00000453958.2:p.Trp1570GlyfsTer11
ENST00000674301.2:c.4707del	ENSP00000501333.2:p.Trp1570GlyfsTer11
ENST00000684448.1:n.3381del
ENST00000316623.10:c.4707del MANE Select	ENSP00000325527.5:p.Trp1570GlyfsTer11
ENST00000316623.9:c.4707del	ENSP00000325527.5:p.Trp1570GlyfsTer11
ENST00000537463.6:c.*470del	ENSP00000440294.2:n.*470del
ENST00000559133.5:c.14del
NM_000138.4:c.4707del , LRG_778t1:c.4707del	NP_000129.3:p.Trp1570GlyfsTer11
NM_000138.5:c.4707del MANE Select	NP_000129.3:p.Trp1570GlyfsTer11