Canonical Allele Identifier: CA913191258

Gene: FBN1

Linked Data

• ClinVar Variation Id: 632812
• ClinVar RCV Id: RCV000780253
• dbSNP Id: rs1597506811

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411248_48411249dup , CM000677.2:g.48411248_48411249dup	GRCh38
NC_000015.9:g.48703445_48703446dup , CM000677.1:g.48703445_48703446dup	GRCh37
NC_000015.8:g.46490737_46490738dup	NCBI36
NG_008805.2:g.239542_239543dup , LRG_778:g.239542_239543dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1167_*1168dup	ENSP00000453958.2:n.*1167_*1168dup
ENST00000674301.2:c.*1872_*1873dup	ENSP00000501333.2:n.*1872_*1873dup
ENST00000682158.1:n.1740_1741dup
ENST00000682170.1:n.2540_2541dup
ENST00000682767.1:n.1656_1657dup
ENST00000316623.10:c.8359_8360dup MANE Select	ENSP00000325527.5:p.Thr2788Ter
ENST00000674301.1:c.3525_3526dup	ENSP00000501333.1:n.3525_3526dup
ENST00000316623.9:c.8359_8360dup	ENSP00000325527.5:p.Thr2788Ter
ENST00000559133.5:c.3728_3729dup
ENST00000561429.1:n.614_615dup
NM_000138.4:c.8359_8360dup , LRG_778t1:c.8359_8360dup	NP_000129.3:p.Thr2788Ter
NM_000138.5:c.8359_8360dup MANE Select	NP_000129.3:p.Thr2788Ter