Canonical Allele Identifier: CA2695220589

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48467982_48467983dup , CM000677.2:g.48467982_48467983dup	GRCh38
NC_000015.9:g.48760179_48760180dup , CM000677.1:g.48760179_48760180dup	GRCh37
NC_000015.8:g.46547471_46547472dup	NCBI36
NG_008805.2:g.182807_182808dup , LRG_778:g.182807_182808dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4703_4704dup	ENSP00000453958.2:p.Ala1569LysfsTer13
ENST00000674301.2:c.4703_4704dup	ENSP00000501333.2:p.Ala1569LysfsTer13
ENST00000684448.1:n.3377_3378dup
ENST00000316623.10:c.4703_4704dup MANE Select	ENSP00000325527.5:p.Ala1569LysfsTer13
ENST00000316623.9:c.4703_4704dup	ENSP00000325527.5:p.Ala1569LysfsTer13
ENST00000537463.6:c.*466_*467dup	ENSP00000440294.2:n.*466_*467dup
ENST00000559133.5:c.10_11dup
NM_000138.4:c.4703_4704dup , LRG_778t1:c.4703_4704dup	NP_000129.3:p.Ala1569LysfsTer13
NM_000138.5:c.4703_4704dup MANE Select	NP_000129.3:p.Ala1569LysfsTer13