Canonical Allele Identifier: CA658798050

Gene: FBN1

Linked Data

• ClinVar Variation Id: 503902
• ClinVar RCV Id: RCV000599530
• dbSNP Id: rs1555395004
• MyVariant Identifiers: chr15:g.48726811del (hg19) ; chr15:g.48434614del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434615del , CM000677.2:g.48434615del	GRCh38
NC_000015.9:g.48726812del , CM000677.1:g.48726812del	GRCh37
NC_000015.8:g.46514104del	NCBI36
NG_008805.2:g.216175del , LRG_778:g.216175del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6596del	ENSP00000453958.2:p.Gly2199ValfsTer3
ENST00000674301.2:c.6596del	ENSP00000501333.2:p.Gly2199ValfsTer3
ENST00000682170.1:n.205del
ENST00000316623.10:c.6596del MANE Select	ENSP00000325527.5:p.Gly2199ValfsTer3
ENST00000674301.1:c.1595del	ENSP00000501333.1:p.Gly532ValfsTer3
ENST00000316623.9:c.6596del	ENSP00000325527.5:p.Gly2199ValfsTer3
ENST00000537463.6:c.*2359del	ENSP00000440294.2:n.*2359del
ENST00000559133.5:c.1903del
NM_000138.4:c.6596del , LRG_778t1:c.6596del	NP_000129.3:p.Gly2199ValfsTer3
NM_000138.5:c.6596del MANE Select	NP_000129.3:p.Gly2199ValfsTer3