Canonical Allele Identifier: CA2628347782

Gene: FBN1

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446710dup , CM000677.2:g.48446710dup	GRCh38
NC_000015.9:g.48738907dup , CM000677.1:g.48738907dup	GRCh37
NC_000015.8:g.46526199dup	NCBI36
NG_008805.2:g.204079dup , LRG_778:g.204079dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5784dup	ENSP00000453958.2:p.Ile1929TyrfsTer4
ENST00000674301.2:c.5784dup	ENSP00000501333.2:p.Ile1929TyrfsTer4
ENST00000684448.1:n.4458dup
ENST00000316623.10:c.5784dup MANE Select	ENSP00000325527.5:p.Ile1929TyrfsTer4
ENST00000674301.1:c.783dup	ENSP00000501333.1:p.Ile262TyrfsTer4
ENST00000316623.9:c.5784dup	ENSP00000325527.5:p.Ile1929TyrfsTer4
ENST00000537463.6:c.*1547dup	ENSP00000440294.2:n.*1547dup
ENST00000559133.5:c.1091dup
NM_000138.4:c.5784dup , LRG_778t1:c.5784dup	NP_000129.3:p.Ile1929TyrfsTer4
NM_000138.5:c.5784dup MANE Select	NP_000129.3:p.Ile1929TyrfsTer4