Canonical Allele Identifier: CA2842074455

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415554dup , CM000677.2:g.48415554dup	GRCh38
NC_000015.9:g.48707751dup , CM000677.1:g.48707751dup	GRCh37
NC_000015.8:g.46495043dup	NCBI36
NG_008805.2:g.235235dup , LRG_778:g.235235dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*841dup	ENSP00000453958.2:n.*841dup
ENST00000674301.2:c.*1546dup	ENSP00000501333.2:n.*1546dup
ENST00000682158.1:n.1414dup
ENST00000682170.1:n.2214dup
ENST00000682767.1:n.1330dup
ENST00000316623.10:c.8033dup MANE Select	ENSP00000325527.5:p.Tyr2678Ter
ENST00000674301.1:c.3199dup	ENSP00000501333.1:n.3199dup
ENST00000316623.9:c.8033dup	ENSP00000325527.5:p.Tyr2678Ter
ENST00000559133.5:c.3402dup
ENST00000561429.1:n.288dup
NM_000138.4:c.8033dup , LRG_778t1:c.8033dup	NP_000129.3:p.Tyr2678Ter
NM_000138.5:c.8033dup MANE Select	NP_000129.3:p.Tyr2678Ter