Canonical Allele Identifier: CA2695220288

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48448858dup , CM000677.2:g.48448858dup	GRCh38
NC_000015.9:g.48741055dup , CM000677.1:g.48741055dup	GRCh37
NC_000015.8:g.46528347dup	NCBI36
NG_008805.2:g.201931dup , LRG_778:g.201931dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5581dup	ENSP00000453958.2:p.Ser1861LysfsTer7
ENST00000674301.2:c.5581dup	ENSP00000501333.2:p.Ser1861LysfsTer7
ENST00000684448.1:n.4255dup
ENST00000316623.10:c.5581dup MANE Select	ENSP00000325527.5:p.Ser1861LysfsTer7
ENST00000674301.1:c.580dup	ENSP00000501333.1:p.Ser194LysfsTer7
ENST00000316623.9:c.5581dup	ENSP00000325527.5:p.Ser1861LysfsTer7
ENST00000537463.6:c.*1344dup	ENSP00000440294.2:n.*1344dup
ENST00000559133.5:c.888dup
NM_000138.4:c.5581dup , LRG_778t1:c.5581dup	NP_000129.3:p.Ser1861LysfsTer7
NM_000138.5:c.5581dup MANE Select	NP_000129.3:p.Ser1861LysfsTer7