Canonical Allele Identifier: CA2695220432

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48537795del , CM000677.2:g.48537795del	GRCh38
NC_000015.9:g.48829992del , CM000677.1:g.48829992del	GRCh37
NC_000015.8:g.46617284del	NCBI36
NG_008805.2:g.112996del , LRG_778:g.112996del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.554del	ENSP00000453958.2:p.Pro185HisfsTer5
ENST00000674301.2:c.554del	ENSP00000501333.2:p.Pro185HisfsTer5
ENST00000316623.10:c.554del MANE Select	ENSP00000325527.5:p.Pro185HisfsTer5
ENST00000316623.9:c.554del	ENSP00000325527.5:p.Pro185HisfsTer5
ENST00000537463.6:c.554del	ENSP00000440294.2:p.Pro185HisfsTer5
NM_000138.4:c.554del , LRG_778t1:c.554del	NP_000129.3:p.Pro185HisfsTer5
NM_000138.5:c.554del MANE Select	NP_000129.3:p.Pro185HisfsTer5