Canonical Allele Identifier: CA2695220207

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444587del , CM000677.2:g.48444587del	GRCh38
NC_000015.9:g.48736784del , CM000677.1:g.48736784del	GRCh37
NC_000015.8:g.46524076del	NCBI36
NG_008805.2:g.206202del , LRG_778:g.206202del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5991del	ENSP00000453958.2:p.Arg1997SerfsTer?
ENST00000674301.2:c.5991del	ENSP00000501333.2:p.Arg1997SerfsTer?
ENST00000684448.1:n.4665del
ENST00000316623.10:c.5991del MANE Select	ENSP00000325527.5:p.Arg1997SerfsTer?
ENST00000674301.1:c.990del	ENSP00000501333.1:p.Arg330SerfsTer?
ENST00000316623.9:c.5991del	ENSP00000325527.5:p.Arg1997SerfsTer?
ENST00000537463.6:c.*1754del	ENSP00000440294.2:n.*1754del
ENST00000559133.5:c.1298del
ENST00000560820.1:n.111del
NM_000138.4:c.5991del , LRG_778t1:c.5991del	NP_000129.3:p.Arg1997SerfsTer?
NM_000138.5:c.5991del MANE Select	NP_000129.3:p.Arg1997SerfsTer?