Canonical Allele Identifier: CA2580617697

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2498190
• ClinVar RCV Id: RCV003326063

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472623del , CM000677.2:g.48472623del	GRCh38
NC_000015.9:g.48764820del , CM000677.1:g.48764820del	GRCh37
NC_000015.8:g.46552112del	NCBI36
NG_008805.2:g.178167del , LRG_778:g.178167del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4265del	ENSP00000453958.2:p.Asn1422MetfsTer?
ENST00000674301.2:c.4265del	ENSP00000501333.2:p.Asn1422MetfsTer?
ENST00000683268.1:n.232del
ENST00000684448.1:n.2939del
ENST00000316623.10:c.4265del MANE Select	ENSP00000325527.5:p.Asn1422MetfsTer?
ENST00000316623.9:c.4265del	ENSP00000325527.5:p.Asn1422MetfsTer?
ENST00000537463.6:c.*28del	ENSP00000440294.2:n.*28del
NM_000138.4:c.4265del , LRG_778t1:c.4265del	NP_000129.3:p.Asn1422MetfsTer?
NM_000138.5:c.4265del MANE Select	NP_000129.3:p.Asn1422MetfsTer?