Canonical Allele Identifier: CA916082399

Gene: FBN1

Linked Data

• ClinVar Variation Id: 870214
• ClinVar RCV Id: RCV001089766 ; RCV003769011 ; RCV002418574
• dbSNP Id: rs2042873946

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412738_48412739del , CM000677.2:g.48412738_48412739del	GRCh38
NC_000015.9:g.48704935_48704936del , CM000677.1:g.48704935_48704936del	GRCh37
NC_000015.8:g.46492227_46492228del	NCBI36
NG_008805.2:g.238053_238054del , LRG_778:g.238053_238054del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*867_*868del	ENSP00000453958.2:n.*867_*868del
ENST00000674301.2:c.*1572_*1573del	ENSP00000501333.2:n.*1572_*1573del
ENST00000682158.1:n.1440_1441del
ENST00000682170.1:n.2240_2241del
ENST00000682767.1:n.1356_1357del
ENST00000316623.10:c.8059_8060del MANE Select	ENSP00000325527.5:p.Val2687PhefsTer17
ENST00000674301.1:c.3225_3226del	ENSP00000501333.1:n.3225_3226del
ENST00000316623.9:c.8059_8060del	ENSP00000325527.5:p.Val2687PhefsTer17
ENST00000559133.5:c.3428_3429del
ENST00000561429.1:n.314_315del
NM_000138.4:c.8059_8060del , LRG_778t1:c.8059_8060del	NP_000129.3:p.Val2687PhefsTer17
NM_000138.5:c.8059_8060del MANE Select	NP_000129.3:p.Val2687PhefsTer17