Canonical Allele Identifier: CA2580089659

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1742577
• ClinVar RCV Id: RCV002330592

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48467975_48467977del , CM000677.2:g.48467975_48467977del	GRCh38
NC_000015.9:g.48760172_48760174del , CM000677.1:g.48760172_48760174del	GRCh37
NC_000015.8:g.46547464_46547466del	NCBI36
NG_008805.2:g.182812_182814del , LRG_778:g.182812_182814del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4708_4710del	ENSP00000453958.2:p.Trp1570del
ENST00000674301.2:c.4708_4710del	ENSP00000501333.2:p.Trp1570del
ENST00000684448.1:n.3382_3384del
ENST00000316623.10:c.4708_4710del MANE Select	ENSP00000325527.5:p.Trp1570del
ENST00000316623.9:c.4708_4710del	ENSP00000325527.5:p.Trp1570del
ENST00000537463.6:c.*471_*473del	ENSP00000440294.2:n.*471_*473del
ENST00000559133.5:c.15_17del
NM_000138.4:c.4708_4710del , LRG_778t1:c.4708_4710del	NP_000129.3:p.Trp1570del
NM_000138.5:c.4708_4710del MANE Select	NP_000129.3:p.Trp1570del