Canonical Allele Identifier: CA2695220365

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48489932dup , CM000677.2:g.48489932dup	GRCh38
NC_000015.9:g.48782129dup , CM000677.1:g.48782129dup	GRCh37
NC_000015.8:g.46569421dup	NCBI36
NG_008805.2:g.160857dup , LRG_778:g.160857dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3001dup	ENSP00000453958.2:p.Thr1001AsnfsTer3
ENST00000674301.2:c.3001dup	ENSP00000501333.2:p.Thr1001AsnfsTer3
ENST00000684448.1:n.1675dup
ENST00000316623.10:c.3001dup MANE Select	ENSP00000325527.5:p.Thr1001AsnfsTer3
ENST00000316623.9:c.3001dup	ENSP00000325527.5:p.Thr1001AsnfsTer3
ENST00000537463.6:c.637-15282dup	ENSP00000440294.2:n.637-15282dup
NM_000138.4:c.3001dup , LRG_778t1:c.3001dup	NP_000129.3:p.Thr1001AsnfsTer3
NM_000138.5:c.3001dup MANE Select	NP_000129.3:p.Thr1001AsnfsTer3