Canonical Allele Identifier: CA2804071422

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487038_48487039del , CM000677.2:g.48487038_48487039del	GRCh38
NC_000015.9:g.48779235_48779236del , CM000677.1:g.48779235_48779236del	GRCh37
NC_000015.8:g.46566527_46566528del	NCBI36
NG_008805.2:g.163752_163753del , LRG_778:g.163752_163753del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3589+38_3589+39del	ENSP00000453958.2:n.3589+38_3589+39del
ENST00000674301.2:c.3589+38_3589+39del	ENSP00000501333.2:n.3589+38_3589+39del
ENST00000684448.1:n.2263+38_2263+39del
ENST00000316623.10:c.3589+38_3589+39del MANE Select	ENSP00000325527.5:n.3589+38_3589+39del
ENST00000316623.9:c.3589+38_3589+39del	ENSP00000325527.5:n.3589+38_3589+39del
ENST00000537463.6:c.637-12387_637-12386del	ENSP00000440294.2:n.637-12387_637-12386del
NM_000138.4:c.3589+38_3589+39del , LRG_778t1:c.3589+38_3589+39del	NP_000129.3:n.3589+38_3589+39del
NM_000138.5:c.3589+38_3589+39del MANE Select	NP_000129.3:n.3589+38_3589+39del