Canonical Allele Identifier: CA2695220224

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434654_48434664del , CM000677.2:g.48434654_48434664del	GRCh38
NC_000015.9:g.48726851_48726861del , CM000677.1:g.48726851_48726861del	GRCh37
NC_000015.8:g.46514143_46514153del	NCBI36
NG_008805.2:g.216127_216137del , LRG_778:g.216127_216137del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6548_6558del	ENSP00000453958.2:p.Asn2183ArgfsTer3
ENST00000674301.2:c.6548_6558del	ENSP00000501333.2:p.Asn2183ArgfsTer3
ENST00000682170.1:n.157_167del
ENST00000316623.10:c.6548_6558del MANE Select	ENSP00000325527.5:p.Asn2183ArgfsTer3
ENST00000674301.1:c.1547_1557del	ENSP00000501333.1:p.Asn516ArgfsTer3
ENST00000316623.9:c.6548_6558del	ENSP00000325527.5:p.Asn2183ArgfsTer3
ENST00000537463.6:c.*2311_*2321del	ENSP00000440294.2:n.*2311_*2321del
ENST00000559133.5:c.1855_1865del
NM_000138.4:c.6548_6558del , LRG_778t1:c.6548_6558del	NP_000129.3:p.Asn2183ArgfsTer3
NM_000138.5:c.6548_6558del MANE Select	NP_000129.3:p.Asn2183ArgfsTer3