Canonical Allele Identifier: CA2573150809

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1381292
• ClinVar RCV Id: RCV001895282
• dbSNP Id: rs2141272501

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468094del , CM000677.2:g.48468094del	GRCh38
NC_000015.9:g.48760291del , CM000677.1:g.48760291del	GRCh37
NC_000015.8:g.46547583del	NCBI36
NG_008805.2:g.182695del , LRG_778:g.182695del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4591del	ENSP00000453958.2:p.Ser1531LeufsTer?
ENST00000674301.2:c.4591del	ENSP00000501333.2:p.Ser1531LeufsTer?
ENST00000684448.1:n.3265del
ENST00000316623.10:c.4591del MANE Select	ENSP00000325527.5:p.Ser1531LeufsTer?
ENST00000316623.9:c.4591del	ENSP00000325527.5:p.Ser1531LeufsTer?
ENST00000537463.6:c.*354del	ENSP00000440294.2:n.*354del
NM_000138.4:c.4591del , LRG_778t1:c.4591del	NP_000129.3:p.Ser1531LeufsTer?
NM_000138.5:c.4591del MANE Select	NP_000129.3:p.Ser1531LeufsTer?