Canonical Allele Identifier: CA2580089613

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2128808
• ClinVar RCV Id: RCV003040226

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412716del , CM000677.2:g.48412716del	GRCh38
NC_000015.9:g.48704913del , CM000677.1:g.48704913del	GRCh37
NC_000015.8:g.46492205del	NCBI36
NG_008805.2:g.238074del , LRG_778:g.238074del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*888del	ENSP00000453958.2:n.*888del
ENST00000674301.2:c.*1593del	ENSP00000501333.2:n.*1593del
ENST00000682158.1:n.1461del
ENST00000682170.1:n.2261del
ENST00000682767.1:n.1377del
ENST00000316623.10:c.8080del MANE Select	ENSP00000325527.5:p.Arg2694GlufsTer?
ENST00000674301.1:c.3246del	ENSP00000501333.1:n.3246del
ENST00000316623.9:c.8080del	ENSP00000325527.5:p.Arg2694GlufsTer?
ENST00000559133.5:c.3449del
ENST00000561429.1:n.335del
NM_000138.4:c.8080del , LRG_778t1:c.8080del	NP_000129.3:p.Arg2694GlufsTer?
NM_000138.5:c.8080del MANE Select	NP_000129.3:p.Arg2694GlufsTer?