Canonical Allele Identifier: CA1139663952

Gene: FBN1

Linked Data

• ClinVar Variation Id: 953240
• ClinVar RCV Id: RCV001225499
• dbSNP Id: rs2043385268

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472585del , CM000677.2:g.48472585del	GRCh38
NC_000015.9:g.48764782del , CM000677.1:g.48764782del	GRCh37
NC_000015.8:g.46552074del	NCBI36
NG_008805.2:g.178204del , LRG_778:g.178204del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4302del	ENSP00000453958.2:p.Phe1435SerfsTer?
ENST00000674301.2:c.4302del	ENSP00000501333.2:p.Phe1435SerfsTer?
ENST00000683268.1:n.269del
ENST00000684448.1:n.2976del
ENST00000316623.10:c.4302del MANE Select	ENSP00000325527.5:p.Phe1435SerfsTer?
ENST00000316623.9:c.4302del	ENSP00000325527.5:p.Phe1435SerfsTer?
ENST00000537463.6:c.*65del	ENSP00000440294.2:n.*65del
NM_000138.4:c.4302del , LRG_778t1:c.4302del	NP_000129.3:p.Phe1435SerfsTer?
NM_000138.5:c.4302del MANE Select	NP_000129.3:p.Phe1435SerfsTer?