Canonical Allele Identifier: CA2740096628

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2941509
• ClinVar RCV Id: RCV003795211

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441739del , CM000677.2:g.48441739del	GRCh38
NC_000015.9:g.48733936del , CM000677.1:g.48733936del	GRCh37
NC_000015.8:g.46521228del	NCBI36
NG_008805.2:g.209050del , LRG_778:g.209050del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6145del	ENSP00000453958.2:p.Ser2049ValfsTer10
ENST00000674301.2:c.6145del	ENSP00000501333.2:p.Ser2049ValfsTer10
ENST00000316623.10:c.6145del MANE Select	ENSP00000325527.5:p.Ser2049ValfsTer10
ENST00000674301.1:c.1144del	ENSP00000501333.1:p.Ser382ValfsTer10
ENST00000316623.9:c.6145del	ENSP00000325527.5:p.Ser2049ValfsTer10
ENST00000537463.6:c.*1908del	ENSP00000440294.2:n.*1908del
ENST00000559133.5:c.1452del
ENST00000560820.1:n.265del
NM_000138.4:c.6145del , LRG_778t1:c.6145del	NP_000129.3:p.Ser2049ValfsTer10
NM_000138.5:c.6145del MANE Select	NP_000129.3:p.Ser2049ValfsTer10