Canonical Allele Identifier: CA658798343

Gene: FBN1

Linked Data

• ClinVar Variation Id: 505296
• ClinVar RCV Id: RCV000602818
• dbSNP Id: rs1555395756
• MyVariant Identifiers: chr15:g.48737629del (hg19) ; chr15:g.48445432del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445434del , CM000677.2:g.48445434del	GRCh38
NC_000015.9:g.48737631del , CM000677.1:g.48737631del	GRCh37
NC_000015.8:g.46524923del	NCBI36
NG_008805.2:g.205357del , LRG_778:g.205357del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5861del	ENSP00000453958.2:p.Phe1954SerfsTer26
ENST00000674301.2:c.5861del	ENSP00000501333.2:p.Phe1954SerfsTer26
ENST00000684448.1:n.4535del
ENST00000316623.10:c.5861del MANE Select	ENSP00000325527.5:p.Phe1954SerfsTer26
ENST00000674301.1:c.860del	ENSP00000501333.1:p.Phe287SerfsTer26
ENST00000316623.9:c.5861del	ENSP00000325527.5:p.Phe1954SerfsTer26
ENST00000537463.6:c.*1624del	ENSP00000440294.2:n.*1624del
ENST00000559133.5:c.1168del
NM_000138.4:c.5861del , LRG_778t1:c.5861del	NP_000129.3:p.Phe1954SerfsTer26
NM_000138.5:c.5861del MANE Select	NP_000129.3:p.Phe1954SerfsTer26