Canonical Allele Identifier: CA2499222964

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1069359
• ClinVar RCV Id: RCV001381182
• dbSNP Id: rs2141226412

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425444dup , CM000677.2:g.48425444dup	GRCh38
NC_000015.9:g.48717641dup , CM000677.1:g.48717641dup	GRCh37
NC_000015.8:g.46504933dup	NCBI36
NG_008805.2:g.225349dup , LRG_778:g.225349dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*190dup	ENSP00000453958.2:n.*190dup
ENST00000674301.2:c.*895dup	ENSP00000501333.2:n.*895dup
ENST00000682170.1:n.1563dup
ENST00000682767.1:n.679dup
ENST00000316623.10:c.7382dup MANE Select	ENSP00000325527.5:p.Asn2461LysfsTer27
ENST00000674301.1:c.2548dup	ENSP00000501333.1:n.2548dup
ENST00000316623.9:c.7382dup	ENSP00000325527.5:p.Asn2461LysfsTer27
ENST00000559133.5:c.2751dup
NM_000138.4:c.7382dup , LRG_778t1:c.7382dup	NP_000129.3:p.Asn2461LysfsTer27
NM_000138.5:c.7382dup MANE Select	NP_000129.3:p.Asn2461LysfsTer27