Canonical Allele Identifier: CA016091

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200163
• ClinVar RCV Id: RCV000181666 ; RCV001852287
• dbSNP Id: rs794728311
• MyVariant Identifiers: chr15:g.48737673del (hg19) ; chr15:g.48445476del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445478del , CM000677.2:g.48445478del	GRCh38
NC_000015.9:g.48737675del , CM000677.1:g.48737675del	GRCh37
NC_000015.8:g.46524967del	NCBI36
NG_008805.2:g.205313del , LRG_778:g.205313del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5817del	ENSP00000453958.2:p.Asn1940IlefsTer?
ENST00000674301.2:c.5817del	ENSP00000501333.2:p.Asn1940IlefsTer?
ENST00000684448.1:n.4491del
ENST00000316623.10:c.5817del MANE Select	ENSP00000325527.5:p.Asn1940IlefsTer?
ENST00000674301.1:c.816del	ENSP00000501333.1:p.Asn273IlefsTer?
ENST00000316623.9:c.5817del	ENSP00000325527.5:p.Asn1940IlefsTer?
ENST00000537463.6:c.*1580del	ENSP00000440294.2:n.*1580del
ENST00000559133.5:c.1124del
NM_000138.4:c.5817del , LRG_778t1:c.5817del	NP_000129.3:p.Asn1940IlefsTer?
NM_000138.5:c.5817del MANE Select	NP_000129.3:p.Asn1940IlefsTer?