Canonical Allele Identifier: CA2804074066

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48520945_48520946dup , CM000677.2:g.48520945_48520946dup	GRCh38
NC_000015.9:g.48813142_48813143dup , CM000677.1:g.48813142_48813143dup	GRCh37
NC_000015.8:g.46600434_46600435dup	NCBI36
NG_008805.2:g.129847_129848dup , LRG_778:g.129847_129848dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.989-125_989-124dup	ENSP00000453958.2:n.989-125_989-124dup
ENST00000674301.2:c.989-125_989-124dup	ENSP00000501333.2:n.989-125_989-124dup
ENST00000316623.10:c.989-125_989-124dup MANE Select	ENSP00000325527.5:n.989-125_989-124dup
ENST00000316623.9:c.989-125_989-124dup	ENSP00000325527.5:n.989-125_989-124dup
ENST00000537463.6:c.636+16769_636+16770dup	ENSP00000440294.2:n.636+16769_636+16770dup
NM_000138.4:c.989-125_989-124dup , LRG_778t1:c.989-125_989-124dup	NP_000129.3:n.989-125_989-124dup
NM_000138.5:c.989-125_989-124dup MANE Select	NP_000129.3:n.989-125_989-124dup