Canonical Allele Identifier: CA2580089625

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2093748
• ClinVar RCV Id: RCV003020991

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415564_48415565insTTACTGTCAGGTGG , CM000677.2:g.48415564_48415565insTTACTGTCAGGTGG	GRCh38
NC_000015.9:g.48707761_48707762insTTACTGTCAGGTGG , CM000677.1:g.48707761_48707762insTTACTGTCAGGTGG	GRCh37
NC_000015.8:g.46495053_46495054insTTACTGTCAGGTGG	NCBI36
NG_008805.2:g.235231_235232insACAGTAACCACCTG , LRG_778:g.235231_235232insACAGTAACCACCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*837_*838insACAGTAACCACCTG	ENSP00000453958.2:n.*837_*838insACAGTAACCACCTG
ENST00000674301.2:c.*1542_*1543insACAGTAACCACCTG	ENSP00000501333.2:n.*1542_*1543insACAGTAACCACCTG
ENST00000682158.1:n.1410_1411insACAGTAACCACCTG
ENST00000682170.1:n.2210_2211insACAGTAACCACCTG
ENST00000682767.1:n.1326_1327insACAGTAACCACCTG
ENST00000316623.10:c.8029_8030insACAGTAACCACCTG MANE Select	ENSP00000325527.5:p.Gly2677AspfsTer10
ENST00000674301.1:c.3195_3196insACAGTAACCACCTG	ENSP00000501333.1:n.3195_3196insACAGTAACCACCTG
ENST00000316623.9:c.8029_8030insACAGTAACCACCTG	ENSP00000325527.5:p.Gly2677AspfsTer10
ENST00000559133.5:c.3398_3399insACAGTAACCACCTG
ENST00000561429.1:n.284_285insACAGTAACCACCTG
NM_000138.4:c.8029_8030insACAGTAACCACCTG , LRG_778t1:c.8029_8030insACAGTAACCACCTG	NP_000129.3:p.Gly2677AspfsTer10
NM_000138.5:c.8029_8030insACAGTAACCACCTG MANE Select	NP_000129.3:p.Gly2677AspfsTer10