Canonical Allele Identifier: CA2695220506

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415561del , CM000677.2:g.48415561del	GRCh38
NC_000015.9:g.48707758del , CM000677.1:g.48707758del	GRCh37
NC_000015.8:g.46495050del	NCBI36
NG_008805.2:g.235229del , LRG_778:g.235229del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*835del	ENSP00000453958.2:n.*835del
ENST00000674301.2:c.*1540del	ENSP00000501333.2:n.*1540del
ENST00000682158.1:n.1408del
ENST00000682170.1:n.2208del
ENST00000682767.1:n.1324del
ENST00000316623.10:c.8027del MANE Select	ENSP00000325527.5:p.Pro2676LeufsTer6
ENST00000674301.1:c.3193del	ENSP00000501333.1:n.3193del
ENST00000316623.9:c.8027del	ENSP00000325527.5:p.Pro2676LeufsTer6
ENST00000559133.5:c.3396del
ENST00000561429.1:n.282del
NM_000138.4:c.8027del , LRG_778t1:c.8027del	NP_000129.3:p.Pro2676LeufsTer6
NM_000138.5:c.8027del MANE Select	NP_000129.3:p.Pro2676LeufsTer6