Canonical Allele Identifier: CA658824297

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549296
• ClinVar RCV Id: RCV000663806
• dbSNP Id: rs1555395846
• MyVariant Identifiers: chr15:g.48739007del (hg19) ; chr15:g.48446810del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446810del , CM000677.2:g.48446810del	GRCh38
NC_000015.9:g.48739007del , CM000677.1:g.48739007del	GRCh37
NC_000015.8:g.46526299del	NCBI36
NG_008805.2:g.203979del , LRG_778:g.203979del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.5684del	ENSP00000453958.2:p.Cys1895LeufsTer?
ENST00000674301.2:c.5684del	ENSP00000501333.2:p.Cys1895LeufsTer?
ENST00000684448.1:n.4358del
ENST00000316623.10:c.5684del MANE Select	ENSP00000325527.5:p.Cys1895LeufsTer?
ENST00000674301.1:c.683del	ENSP00000501333.1:p.Cys228LeufsTer?
ENST00000316623.9:c.5684del	ENSP00000325527.5:p.Cys1895LeufsTer?
ENST00000537463.6:c.*1447del	ENSP00000440294.2:n.*1447del
ENST00000559133.5:c.991del
NM_000138.4:c.5684del , LRG_778t1:c.5684del	NP_000129.3:p.Cys1895LeufsTer?
NM_000138.5:c.5684del MANE Select	NP_000129.3:p.Cys1895LeufsTer?