Canonical Allele Identifier: CA2695220209

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425409_48425439del , CM000677.2:g.48425409_48425439del	GRCh38
NC_000015.9:g.48717606_48717636del , CM000677.1:g.48717606_48717636del	GRCh37
NC_000015.8:g.46504898_46504928del	NCBI36
NG_008805.2:g.225350_225380del , LRG_778:g.225350_225380del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*191_*221del	ENSP00000453958.2:n.*191_*221del
ENST00000674301.2:c.*896_*926del	ENSP00000501333.2:n.*896_*926del
ENST00000682170.1:n.1564_1594del
ENST00000682767.1:n.680_710del
ENST00000316623.10:c.7383_7413del MANE Select	ENSP00000325527.5:p.Asn2461LysfsTer?
ENST00000674301.1:c.2549_2579del	ENSP00000501333.1:n.2549_2579del
ENST00000316623.9:c.7383_7413del	ENSP00000325527.5:p.Asn2461LysfsTer?
ENST00000559133.5:c.2752_2782del
NM_000138.4:c.7383_7413del , LRG_778t1:c.7383_7413del	NP_000129.3:p.Asn2461LysfsTer?
NM_000138.5:c.7383_7413del MANE Select	NP_000129.3:p.Asn2461LysfsTer?