Canonical Allele Identifier: CA2695220175

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421617del , CM000677.2:g.48421617del	GRCh38
NC_000015.9:g.48713814del , CM000677.1:g.48713814del	GRCh37
NC_000015.8:g.46501106del	NCBI36
NG_008805.2:g.229172del , LRG_778:g.229172del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*448del	ENSP00000453958.2:n.*448del
ENST00000674301.2:c.*1153del	ENSP00000501333.2:n.*1153del
ENST00000682170.1:n.1821del
ENST00000682767.1:n.937del
ENST00000316623.10:c.7640del MANE Select	ENSP00000325527.5:p.Ser2547ThrfsTer?
ENST00000674301.1:c.2806del	ENSP00000501333.1:n.2806del
ENST00000316623.9:c.7640del	ENSP00000325527.5:p.Ser2547ThrfsTer?
ENST00000559133.5:c.3009del
NM_000138.4:c.7640del , LRG_778t1:c.7640del	NP_000129.3:p.Ser2547ThrfsTer?
NM_000138.5:c.7640del MANE Select	NP_000129.3:p.Ser2547ThrfsTer?