Canonical Allele Identifier: CA2580089672

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444566_48444567del , CM000677.2:g.48444566_48444567del	GRCh38
NC_000015.9:g.48736763_48736764del , CM000677.1:g.48736763_48736764del	GRCh37
NC_000015.8:g.46524055_46524056del	NCBI36
NG_008805.2:g.206223_206224del , LRG_778:g.206223_206224del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6012_6013del	ENSP00000453958.2:p.Tyr2004Ter
ENST00000674301.2:c.6012_6013del	ENSP00000501333.2:p.Tyr2004Ter
ENST00000684448.1:n.4686_4687del
ENST00000316623.10:c.6012_6013del MANE Select	ENSP00000325527.5:p.Tyr2004Ter
ENST00000674301.1:c.1011_1012del	ENSP00000501333.1:p.Tyr337Ter
ENST00000316623.9:c.6012_6013del	ENSP00000325527.5:p.Tyr2004Ter
ENST00000537463.6:c.*1775_*1776del	ENSP00000440294.2:n.*1775_*1776del
ENST00000559133.5:c.1319_1320del
ENST00000560820.1:n.132_133del
NM_000138.4:c.6012_6013del , LRG_778t1:c.6012_6013del	NP_000129.3:p.Tyr2004Ter
NM_000138.5:c.6012_6013del MANE Select	NP_000129.3:p.Tyr2004Ter