Canonical Allele Identifier: CA2695220820

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411027_48411028dup , CM000677.2:g.48411027_48411028dup	GRCh38
NC_000015.9:g.48703224_48703225dup , CM000677.1:g.48703224_48703225dup	GRCh37
NC_000015.8:g.46490516_46490517dup	NCBI36
NG_008805.2:g.239761_239762dup , LRG_778:g.239761_239762dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1386_*1387dup	ENSP00000453958.2:n.*1386_*1387dup
ENST00000682158.1:n.1959_1960dup
ENST00000682170.1:n.2759_2760dup
ENST00000682767.1:n.1875_1876dup
ENST00000316623.10:c.8578_8579dup MANE Select	ENSP00000325527.5:p.Asp2860GlufsTer4
ENST00000316623.9:c.8578_8579dup	ENSP00000325527.5:p.Asp2860GlufsTer4
ENST00000559133.5:c.3947_3948dup
NM_000138.4:c.8578_8579dup , LRG_778t1:c.8578_8579dup	NP_000129.3:p.Asp2860GlufsTer4
NM_000138.5:c.8578_8579dup MANE Select	NP_000129.3:p.Asp2860GlufsTer4