Canonical Allele Identifier: CA2580089691

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2056629
• ClinVar RCV Id: RCV002947552

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445464del , CM000677.2:g.48445464del	GRCh38
NC_000015.9:g.48737661del , CM000677.1:g.48737661del	GRCh37
NC_000015.8:g.46524953del	NCBI36
NG_008805.2:g.205327del , LRG_778:g.205327del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5831del	ENSP00000453958.2:p.Asn1944MetfsTer?
ENST00000674301.2:c.5831del	ENSP00000501333.2:p.Asn1944MetfsTer?
ENST00000684448.1:n.4505del
ENST00000316623.10:c.5831del MANE Select	ENSP00000325527.5:p.Asn1944MetfsTer?
ENST00000674301.1:c.830del	ENSP00000501333.1:p.Asn277MetfsTer?
ENST00000316623.9:c.5831del	ENSP00000325527.5:p.Asn1944MetfsTer?
ENST00000537463.6:c.*1594del	ENSP00000440294.2:n.*1594del
ENST00000559133.5:c.1138del
NM_000138.4:c.5831del , LRG_778t1:c.5831del	NP_000129.3:p.Asn1944MetfsTer?
NM_000138.5:c.5831del MANE Select	NP_000129.3:p.Asn1944MetfsTer?