Canonical Allele Identifier: CA2804072270

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48492333_48492334dup , CM000677.2:g.48492333_48492334dup	GRCh38
NC_000015.9:g.48784530_48784531dup , CM000677.1:g.48784530_48784531dup	GRCh37
NC_000015.8:g.46571822_46571823dup	NCBI36
NG_008805.2:g.158456_158457dup , LRG_778:g.158456_158457dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2854+128_2854+129dup	ENSP00000453958.2:n.2854+128_2854+129dup
ENST00000674301.2:c.2854+128_2854+129dup	ENSP00000501333.2:n.2854+128_2854+129dup
ENST00000684448.1:n.1528+128_1528+129dup
ENST00000316623.10:c.2854+128_2854+129dup MANE Select	ENSP00000325527.5:n.2854+128_2854+129dup
ENST00000316623.9:c.2854+128_2854+129dup	ENSP00000325527.5:n.2854+128_2854+129dup
ENST00000537463.6:c.637-17683_637-17682dup	ENSP00000440294.2:n.637-17683_637-17682dup
NM_000138.4:c.2854+128_2854+129dup , LRG_778t1:c.2854+128_2854+129dup	NP_000129.3:n.2854+128_2854+129dup
NM_000138.5:c.2854+128_2854+129dup MANE Select	NP_000129.3:n.2854+128_2854+129dup