Canonical Allele Identifier: CA2695220320

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48510048_48510062del , CM000677.2:g.48510048_48510062del	GRCh38
NC_000015.9:g.48802245_48802259del , CM000677.1:g.48802245_48802259del	GRCh37
NC_000015.8:g.46589537_46589551del	NCBI36
NG_008805.2:g.140729_140743del , LRG_778:g.140729_140743del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1698_1712del	ENSP00000453958.2:p.Asp566_Cys570del
ENST00000674301.2:c.1698_1712del	ENSP00000501333.2:p.Asp566_Cys570del
ENST00000684448.1:n.372_386del
ENST00000316623.10:c.1698_1712del MANE Select	ENSP00000325527.5:p.Asp566_Cys570del
ENST00000316623.9:c.1698_1712del	ENSP00000325527.5:p.Asp566_Cys570del
ENST00000537463.6:c.636+27651_636+27665del	ENSP00000440294.2:n.636+27651_636+27665del
NM_000138.4:c.1698_1712del , LRG_778t1:c.1698_1712del	NP_000129.3:p.Asp566_Cys570del
NM_000138.5:c.1698_1712del MANE Select	NP_000129.3:p.Asp566_Cys570del