Canonical Allele Identifier: CA2580612805

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1453824
• ClinVar RCV Id: RCV001941564
• dbSNP Id: rs2141291389

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48485474_48485477del , CM000677.2:g.48485474_48485477del	GRCh38
NC_000015.9:g.48777671_48777674del , CM000677.1:g.48777671_48777674del	GRCh37
NC_000015.8:g.46564963_46564966del	NCBI36
NG_008805.2:g.165316_165319del , LRG_778:g.165316_165319del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3613_3616del	ENSP00000453958.2:p.Asn1205ValfsTer24
ENST00000674301.2:c.3613_3616del	ENSP00000501333.2:p.Asn1205ValfsTer24
ENST00000684448.1:n.2287_2290del
ENST00000316623.10:c.3613_3616del MANE Select	ENSP00000325527.5:p.Asn1205ValfsTer24
ENST00000316623.9:c.3613_3616del	ENSP00000325527.5:p.Asn1205ValfsTer24
ENST00000537463.6:c.637-10823_637-10820del	ENSP00000440294.2:n.637-10823_637-10820del
NM_000138.4:c.3613_3616del , LRG_778t1:c.3613_3616del	NP_000129.3:p.Asn1205ValfsTer24
NM_000138.5:c.3613_3616del MANE Select	NP_000129.3:p.Asn1205ValfsTer24