Canonical Allele Identifier: CA2695220596

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468065_48468069dup , CM000677.2:g.48468065_48468069dup	GRCh38
NC_000015.9:g.48760262_48760266dup , CM000677.1:g.48760262_48760266dup	GRCh37
NC_000015.8:g.46547554_46547558dup	NCBI36
NG_008805.2:g.182720_182724dup , LRG_778:g.182720_182724dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4616_4620dup	ENSP00000453958.2:p.Arg1541AspfsTer?
ENST00000674301.2:c.4616_4620dup	ENSP00000501333.2:p.Arg1541AspfsTer?
ENST00000684448.1:n.3290_3294dup
ENST00000316623.10:c.4616_4620dup MANE Select	ENSP00000325527.5:p.Arg1541AspfsTer?
ENST00000316623.9:c.4616_4620dup	ENSP00000325527.5:p.Arg1541AspfsTer?
ENST00000537463.6:c.*379_*383dup	ENSP00000440294.2:n.*379_*383dup
NM_000138.4:c.4616_4620dup , LRG_778t1:c.4616_4620dup	NP_000129.3:p.Arg1541AspfsTer?
NM_000138.5:c.4616_4620dup MANE Select	NP_000129.3:p.Arg1541AspfsTer?